Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177211703G>A | CA362323561 | NSD1 | c.2431G>A (p.Gly811Ser) n.612+7411G>A n.2887G>A c.2995G>A (p.Gly999Ser) n.2701G>A c.3304G>A (p.Gly1102Ser) n.3451G>A c.2497G>A (p.Gly833Ser) c.2884G>A (p.Gly962Ser) c.2248G>A (p.Gly750Ser) c.-692G>A (n.-692G>A) | dbSNP |
5 | g.177211703G>C | CA132831291 | NSD1 | c.2431G>C (p.Gly811Arg) n.612+7411G>C n.2887G>C c.2995G>C (p.Gly999Arg) n.2701G>C c.3304G>C (p.Gly1102Arg) n.3451G>C c.2497G>C (p.Gly833Arg) c.2884G>C (p.Gly962Arg) c.2248G>C (p.Gly750Arg) c.-692G>C (n.-692G>C) | dbSNP |
5 | g.177211703G= | CA1603478718 | NSD1 | c.2431G= (p.Gly811=) n.612+7411G= n.2887G= c.2995G= (p.Gly999=) n.2701G= c.3304G= (p.Gly1102=) n.3451G= c.2497G= (p.Gly833=) c.2884G= (p.Gly962=) c.2248G= (p.Gly750=) c.-692G= (n.-692G=) | |
5 | g.177211703G>T | CA362323556 | NSD1 | c.2431G>T (p.Gly811Cys) n.612+7411G>T n.2887G>T c.2995G>T (p.Gly999Cys) n.2701G>T c.3304G>T (p.Gly1102Cys) n.3451G>T c.2497G>T (p.Gly833Cys) c.2884G>T (p.Gly962Cys) c.2248G>T (p.Gly750Cys) c.-692G>T (n.-692G>T) | |
5 | g.177211704G>A | CA362323567 | NSD1 | c.2432G>A (p.Gly811Asp) n.612+7412G>A n.2888G>A c.2996G>A (p.Gly999Asp) n.2702G>A c.3305G>A (p.Gly1102Asp) n.3452G>A c.2498G>A (p.Gly833Asp) c.2885G>A (p.Gly962Asp) c.2249G>A (p.Gly750Asp) c.-691G>A (n.-691G>A) | dbSNP |
5 | g.177211704G>C | CA362323569 | NSD1 | c.2432G>C (p.Gly811Ala) n.612+7412G>C n.2888G>C c.2996G>C (p.Gly999Ala) n.2702G>C c.3305G>C (p.Gly1102Ala) n.3452G>C c.2498G>C (p.Gly833Ala) c.2885G>C (p.Gly962Ala) c.2249G>C (p.Gly750Ala) c.-691G>C (n.-691G>C) | dbSNP |
5 | g.177211704G>T | CA362323571 | NSD1 | c.2432G>T (p.Gly811Val) n.612+7412G>T n.2888G>T c.2996G>T (p.Gly999Val) n.2702G>T c.3305G>T (p.Gly1102Val) n.3452G>T c.2498G>T (p.Gly833Val) c.2885G>T (p.Gly962Val) c.2249G>T (p.Gly750Val) c.-691G>T (n.-691G>T) | |
5 | g.177211705T>A | CA447961060 | NSD1 | c.2433T>A (p.Gly811=) n.612+7413T>A n.2889T>A c.2997T>A (p.Gly999=) n.2703T>A c.3306T>A (p.Gly1102=) n.3453T>A c.2499T>A (p.Gly833=) c.2886T>A (p.Gly962=) c.2250T>A (p.Gly750=) c.-690T>A (n.-690T>A) | |
5 | g.177211705T>C | CA447961061 | NSD1 | c.2433T>C (p.Gly811=) n.612+7413T>C n.2889T>C c.2997T>C (p.Gly999=) n.2703T>C c.3306T>C (p.Gly1102=) n.3453T>C c.2499T>C (p.Gly833=) c.2886T>C (p.Gly962=) c.2250T>C (p.Gly750=) c.-690T>C (n.-690T>C) | |
5 | g.177211705T>G | CA447961062 | NSD1 | c.2433T>G (p.Gly811=) n.612+7413T>G n.2889T>G c.2997T>G (p.Gly999=) n.2703T>G c.3306T>G (p.Gly1102=) n.3453T>G c.2499T>G (p.Gly833=) c.2886T>G (p.Gly962=) c.2250T>G (p.Gly750=) c.-690T>G (n.-690T>G) | |
5 | g.177211706G>A | CA3577413 | NSD1 | c.2434G>A (p.Asp812Asn) n.612+7414G>A n.2890G>A c.2998G>A (p.Asp1000Asn) n.2704G>A c.3307G>A (p.Asp1103Asn) n.3454G>A c.2500G>A (p.Asp834Asn) c.2887G>A (p.Asp963Asn) c.2251G>A (p.Asp751Asn) c.-689G>A (n.-689G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211706G>C | CA362323572 | NSD1 | c.2434G>C (p.Asp812His) n.612+7414G>C n.2890G>C c.2998G>C (p.Asp1000His) n.2704G>C c.3307G>C (p.Asp1103His) n.3454G>C c.2500G>C (p.Asp834His) c.2887G>C (p.Asp963His) c.2251G>C (p.Asp751His) c.-689G>C (n.-689G>C) | |
5 | g.177211706G= | CA1603478723 | NSD1 | c.2434G= (p.Asp812=) n.612+7414G= n.2890G= c.2998G= (p.Asp1000=) n.2704G= c.3307G= (p.Asp1103=) n.3454G= c.2500G= (p.Asp834=) c.2887G= (p.Asp963=) c.2251G= (p.Asp751=) c.-689G= (n.-689G=) | |
5 | g.177211706G>T | CA362323573 | NSD1 | c.2434G>T (p.Asp812Tyr) n.612+7414G>T n.2890G>T c.2998G>T (p.Asp1000Tyr) n.2704G>T c.3307G>T (p.Asp1103Tyr) n.3454G>T c.2500G>T (p.Asp834Tyr) c.2887G>T (p.Asp963Tyr) c.2251G>T (p.Asp751Tyr) c.-689G>T (n.-689G>T) | gnomAD v4 |
5 | g.177211707A>C | CA362323576 | NSD1 | c.2435A>C (p.Asp812Ala) n.612+7415A>C n.2891A>C c.2999A>C (p.Asp1000Ala) n.2705A>C c.3308A>C (p.Asp1103Ala) n.3455A>C c.2501A>C (p.Asp834Ala) c.2888A>C (p.Asp963Ala) c.2252A>C (p.Asp751Ala) c.-688A>C (n.-688A>C) | |
5 | g.177211707A>G | CA362323577 | NSD1 | c.2435A>G (p.Asp812Gly) n.612+7415A>G n.2891A>G c.2999A>G (p.Asp1000Gly) n.2705A>G c.3308A>G (p.Asp1103Gly) n.3455A>G c.2501A>G (p.Asp834Gly) c.2888A>G (p.Asp963Gly) c.2252A>G (p.Asp751Gly) c.-688A>G (n.-688A>G) | |
5 | g.177211707A>T | CA362323580 | NSD1 | c.2435A>T (p.Asp812Val) n.612+7415A>T n.2891A>T c.2999A>T (p.Asp1000Val) n.2705A>T c.3308A>T (p.Asp1103Val) n.3455A>T c.2501A>T (p.Asp834Val) c.2888A>T (p.Asp963Val) c.2252A>T (p.Asp751Val) c.-688A>T (n.-688A>T) | |
5 | g.177211708C>A | CA362323584 | NSD1 | c.2436C>A (p.Asp812Glu) n.612+7416C>A n.2892C>A c.3000C>A (p.Asp1000Glu) n.2706C>A c.3309C>A (p.Asp1103Glu) n.3456C>A c.2502C>A (p.Asp834Glu) c.2889C>A (p.Asp963Glu) c.2253C>A (p.Asp751Glu) c.-687C>A (n.-687C>A) | |
5 | g.177211708C= | CA1603478728 | NSD1 | c.2436C= (p.Asp812=) n.612+7416C= n.2892C= c.3000C= (p.Asp1000=) n.2706C= c.3309C= (p.Asp1103=) n.3456C= c.2502C= (p.Asp834=) c.2889C= (p.Asp963=) c.2253C= (p.Asp751=) c.-687C= (n.-687C=) | |
5 | g.177211708C>G | CA132831308 | NSD1 | c.2436C>G (p.Asp812Glu) n.612+7416C>G n.2892C>G c.3000C>G (p.Asp1000Glu) n.2706C>G c.3309C>G (p.Asp1103Glu) n.3456C>G c.2502C>G (p.Asp834Glu) c.2889C>G (p.Asp963Glu) c.2253C>G (p.Asp751Glu) c.-687C>G (n.-687C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211708C>T | CA447961063 | NSD1 | c.2436C>T (p.Asp812=) n.612+7416C>T n.2892C>T c.3000C>T (p.Asp1000=) n.2706C>T c.3309C>T (p.Asp1103=) n.3456C>T c.2502C>T (p.Asp834=) c.2889C>T (p.Asp963=) c.2253C>T (p.Asp751=) c.-687C>T (n.-687C>T) | COSMIC COSMIC |
5 | g.177211709C>A | CA362323597 | NSD1 | c.2437C>A (p.His813Asn) n.612+7417C>A n.2893C>A c.3001C>A (p.His1001Asn) n.2707C>A c.3310C>A (p.His1104Asn) n.3457C>A c.2503C>A (p.His835Asn) c.2890C>A (p.His964Asn) c.2254C>A (p.His752Asn) c.-686C>A (n.-686C>A) | |
5 | g.177211709C>G | CA362323594 | NSD1 | c.2437C>G (p.His813Asp) n.612+7417C>G n.2893C>G c.3001C>G (p.His1001Asp) n.2707C>G c.3310C>G (p.His1104Asp) n.3457C>G c.2503C>G (p.His835Asp) c.2890C>G (p.His964Asp) c.2254C>G (p.His752Asp) c.-686C>G (n.-686C>G) | |
5 | g.177211709C>T | CA362323591 | NSD1 | c.2437C>T (p.His813Tyr) n.612+7417C>T n.2893C>T c.3001C>T (p.His1001Tyr) n.2707C>T c.3310C>T (p.His1104Tyr) n.3457C>T c.2503C>T (p.His835Tyr) c.2890C>T (p.His964Tyr) c.2254C>T (p.His752Tyr) c.-686C>T (n.-686C>T) | gnomAD v4 |
5 | g.177211710A= | CA1603478734 | NSD1 | c.2438A= (p.His813=) n.612+7418A= n.2894A= c.3002A= (p.His1001=) n.2708A= c.3311A= (p.His1104=) n.3458A= c.2504A= (p.His835=) c.2891A= (p.His964=) c.2255A= (p.His752=) c.-685A= (n.-685A=) | |
5 | g.177211710A>C | CA362323601 | NSD1 | c.2438A>C (p.His813Pro) n.612+7418A>C n.2894A>C c.3002A>C (p.His1001Pro) n.2708A>C c.3311A>C (p.His1104Pro) n.3458A>C c.2504A>C (p.His835Pro) c.2891A>C (p.His964Pro) c.2255A>C (p.His752Pro) c.-685A>C (n.-685A>C) | |
5 | g.177211710A>G | CA3577414 | NSD1 | c.2438A>G (p.His813Arg) n.612+7418A>G n.2894A>G c.3002A>G (p.His1001Arg) n.2708A>G c.3311A>G (p.His1104Arg) n.3458A>G c.2504A>G (p.His835Arg) c.2891A>G (p.His964Arg) c.2255A>G (p.His752Arg) c.-685A>G (n.-685A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211710A>T | CA362323605 | NSD1 | c.2438A>T (p.His813Leu) n.612+7418A>T n.2894A>T c.3002A>T (p.His1001Leu) n.2708A>T c.3311A>T (p.His1104Leu) n.3458A>T c.2504A>T (p.His835Leu) c.2891A>T (p.His964Leu) c.2255A>T (p.His752Leu) c.-685A>T (n.-685A>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211711T>A | CA362323608 | NSD1 | c.2439T>A (p.His813Gln) n.612+7419T>A n.2895T>A c.3003T>A (p.His1001Gln) n.2709T>A c.3312T>A (p.His1104Gln) n.3459T>A c.2505T>A (p.His835Gln) c.2892T>A (p.His964Gln) c.2256T>A (p.His752Gln) c.-684T>A (n.-684T>A) | |
5 | g.177211711T>C | CA447961064 | NSD1 | c.2439T>C (p.His813=) n.612+7419T>C n.2895T>C c.3003T>C (p.His1001=) n.2709T>C c.3312T>C (p.His1104=) n.3459T>C c.2505T>C (p.His835=) c.2892T>C (p.His964=) c.2256T>C (p.His752=) c.-684T>C (n.-684T>C) | |
5 | g.177211711T>G | CA362323613 | NSD1 | c.2439T>G (p.His813Gln) n.612+7419T>G n.2895T>G c.3003T>G (p.His1001Gln) n.2709T>G c.3312T>G (p.His1104Gln) n.3459T>G c.2505T>G (p.His835Gln) c.2892T>G (p.His964Gln) c.2256T>G (p.His752Gln) c.-684T>G (n.-684T>G) | |
5 | g.177211715dup | CA319724 | NSD1 | c.2443dup (p.Ser815PhefsTer2) n.612+7423dup n.2899dup c.3007dup (p.Ser1003PhefsTer2) n.2713dup c.3316dup (p.Ser1106PhefsTer2) n.3463dup c.2509dup (p.Ser837PhefsTer2) c.2896dup (p.Ser966PhefsTer2) c.2260dup (p.Ser754PhefsTer2) c.-680dup (n.-680dup) | ClinVar dbSNP |
5 | g.177211715del | CA2710741776 | NSD1 | c.2443del (p.Ser815LeufsTer?) n.612+7423del n.2899del c.3007del (p.Ser1003LeufsTer?) n.2713del c.3316del (p.Ser1106LeufsTer?) n.3463del c.2509del (p.Ser837LeufsTer?) c.2896del (p.Ser966LeufsTer?) c.2260del (p.Ser754LeufsTer?) c.-680del (n.-680del) | dbSNP |
5 | g.177211712T>A | CA362323618 | NSD1 | c.2440T>A (p.Phe814Ile) n.612+7420T>A n.2896T>A c.3004T>A (p.Phe1002Ile) n.2710T>A c.3313T>A (p.Phe1105Ile) n.3460T>A c.2506T>A (p.Phe836Ile) c.2893T>A (p.Phe965Ile) c.2257T>A (p.Phe753Ile) c.-683T>A (n.-683T>A) | |
5 | g.177211712T>C | CA362323621 | NSD1 | c.2440T>C (p.Phe814Leu) n.612+7420T>C n.2896T>C c.3004T>C (p.Phe1002Leu) n.2710T>C c.3313T>C (p.Phe1105Leu) n.3460T>C c.2506T>C (p.Phe836Leu) c.2893T>C (p.Phe965Leu) c.2257T>C (p.Phe753Leu) c.-683T>C (n.-683T>C) | |
5 | g.177211712T>G | CA362323623 | NSD1 | c.2440T>G (p.Phe814Val) n.612+7420T>G n.2896T>G c.3004T>G (p.Phe1002Val) n.2710T>G c.3313T>G (p.Phe1105Val) n.3460T>G c.2506T>G (p.Phe836Val) c.2893T>G (p.Phe965Val) c.2257T>G (p.Phe753Val) c.-683T>G (n.-683T>G) | |
5 | g.177211713T>A | CA362323628 | NSD1 | c.2441T>A (p.Phe814Tyr) n.612+7421T>A n.2897T>A c.3005T>A (p.Phe1002Tyr) n.2711T>A c.3314T>A (p.Phe1105Tyr) n.3461T>A c.2507T>A (p.Phe836Tyr) c.2894T>A (p.Phe965Tyr) c.2258T>A (p.Phe753Tyr) c.-682T>A (n.-682T>A) | dbSNP |
5 | g.177211713T>C | CA362323632 | NSD1 | c.2441T>C (p.Phe814Ser) n.612+7421T>C n.2897T>C c.3005T>C (p.Phe1002Ser) n.2711T>C c.3314T>C (p.Phe1105Ser) n.3461T>C c.2507T>C (p.Phe836Ser) c.2894T>C (p.Phe965Ser) c.2258T>C (p.Phe753Ser) c.-682T>C (n.-682T>C) | |
5 | g.177211713T>G | CA362323635 | NSD1 | c.2441T>G (p.Phe814Cys) n.612+7421T>G n.2897T>G c.3005T>G (p.Phe1002Cys) n.2711T>G c.3314T>G (p.Phe1105Cys) n.3461T>G c.2507T>G (p.Phe836Cys) c.2894T>G (p.Phe965Cys) c.2258T>G (p.Phe753Cys) c.-682T>G (n.-682T>G) | |
5 | g.177211714T>A | CA362323639 | NSD1 | c.2442T>A (p.Phe814Leu) n.612+7422T>A n.2898T>A c.3006T>A (p.Phe1002Leu) n.2712T>A c.3315T>A (p.Phe1105Leu) n.3462T>A c.2508T>A (p.Phe836Leu) c.2895T>A (p.Phe965Leu) c.2259T>A (p.Phe753Leu) c.-681T>A (n.-681T>A) | |
5 | g.177211714T>C | CA447961065 | NSD1 | c.2442T>C (p.Phe814=) n.612+7422T>C n.2898T>C c.3006T>C (p.Phe1002=) n.2712T>C c.3315T>C (p.Phe1105=) n.3462T>C c.2508T>C (p.Phe836=) c.2895T>C (p.Phe965=) c.2259T>C (p.Phe753=) c.-681T>C (n.-681T>C) | |
5 | g.177211714T>G | CA362323641 | NSD1 | c.2442T>G (p.Phe814Leu) n.612+7422T>G n.2898T>G c.3006T>G (p.Phe1002Leu) n.2712T>G c.3315T>G (p.Phe1105Leu) n.3462T>G c.2508T>G (p.Phe836Leu) c.2895T>G (p.Phe965Leu) c.2259T>G (p.Phe753Leu) c.-681T>G (n.-681T>G) | |
5 | g.177211715T>A | CA362323646 | NSD1 | c.2443T>A (p.Ser815Thr) n.612+7423T>A n.2899T>A c.3007T>A (p.Ser1003Thr) n.2713T>A c.3316T>A (p.Ser1106Thr) n.3463T>A c.2509T>A (p.Ser837Thr) c.2896T>A (p.Ser966Thr) c.2260T>A (p.Ser754Thr) c.-680T>A (n.-680T>A) | |
5 | g.177211715T>C | CA362323651 | NSD1 | c.2443T>C (p.Ser815Pro) n.612+7423T>C n.2899T>C c.3007T>C (p.Ser1003Pro) n.2713T>C c.3316T>C (p.Ser1106Pro) n.3463T>C c.2509T>C (p.Ser837Pro) c.2896T>C (p.Ser966Pro) c.2260T>C (p.Ser754Pro) c.-680T>C (n.-680T>C) | |
5 | g.177211715T>G | CA362323648 | NSD1 | c.2443T>G (p.Ser815Ala) n.612+7423T>G n.2899T>G c.3007T>G (p.Ser1003Ala) n.2713T>G c.3316T>G (p.Ser1106Ala) n.3463T>G c.2509T>G (p.Ser837Ala) c.2896T>G (p.Ser966Ala) c.2260T>G (p.Ser754Ala) c.-680T>G (n.-680T>G) | |
5 | g.177211716C>A | CA362323654 | NSD1 | c.2444C>A (p.Ser815Tyr) n.612+7424C>A n.2900C>A c.3008C>A (p.Ser1003Tyr) n.2714C>A c.3317C>A (p.Ser1106Tyr) n.3464C>A c.2510C>A (p.Ser837Tyr) c.2897C>A (p.Ser966Tyr) c.2261C>A (p.Ser754Tyr) c.-679C>A (n.-679C>A) | |
5 | g.177211716C>G | CA362323657 | NSD1 | c.2444C>G (p.Ser815Cys) n.612+7424C>G n.2900C>G c.3008C>G (p.Ser1003Cys) n.2714C>G c.3317C>G (p.Ser1106Cys) n.3464C>G c.2510C>G (p.Ser837Cys) c.2897C>G (p.Ser966Cys) c.2261C>G (p.Ser754Cys) c.-679C>G (n.-679C>G) | |
5 | g.177211716C>T | CA362323659 | NSD1 | c.2444C>T (p.Ser815Phe) n.612+7424C>T n.2900C>T c.3008C>T (p.Ser1003Phe) n.2714C>T c.3317C>T (p.Ser1106Phe) n.3464C>T c.2510C>T (p.Ser837Phe) c.2897C>T (p.Ser966Phe) c.2261C>T (p.Ser754Phe) c.-679C>T (n.-679C>T) | |
5 | g.177211716_177211717insCAG | CA2501042640 | NSD1 | c.2444_2445insCAG (p.Ser815_Asp816insSer) n.612+7424_612+7425insCAG n.2900_2901insCAG c.3008_3009insCAG (p.Ser1003_Asp1004insSer) n.2714_2715insCAG c.3317_3318insCAG (p.Ser1106_Asp1107insSer) n.3464_3465insCAG c.2510_2511insCAG (p.Ser837_Asp838insSer) c.2897_2898insCAG (p.Ser966_Asp967insSer) c.2261_2262insCAG (p.Ser754_Asp755insSer) c.-679_-678insCAG (n.-679_-678insCAG) | |
5 | g.177211717T>A | CA447961068 | NSD1 | c.2445T>A (p.Ser815=) n.612+7425T>A n.2901T>A c.3009T>A (p.Ser1003=) n.2715T>A c.3318T>A (p.Ser1106=) n.3465T>A c.2511T>A (p.Ser837=) c.2898T>A (p.Ser966=) c.2262T>A (p.Ser754=) c.-678T>A (n.-678T>A) | |
5 | g.177211717T>C | CA447961066 | NSD1 | c.2445T>C (p.Ser815=) n.612+7425T>C n.2901T>C c.3009T>C (p.Ser1003=) n.2715T>C c.3318T>C (p.Ser1106=) n.3465T>C c.2511T>C (p.Ser837=) c.2898T>C (p.Ser966=) c.2262T>C (p.Ser754=) c.-678T>C (n.-678T>C) | |
5 | g.177211717T>G | CA447961067 | NSD1 | c.2445T>G (p.Ser815=) n.612+7425T>G n.2901T>G c.3009T>G (p.Ser1003=) n.2715T>G c.3318T>G (p.Ser1106=) n.3465T>G c.2511T>G (p.Ser837=) c.2898T>G (p.Ser966=) c.2262T>G (p.Ser754=) c.-678T>G (n.-678T>G) | |
5 | g.177211718G>A | CA362323662 | NSD1 | c.2446G>A (p.Asp816Asn) n.612+7426G>A n.2902G>A c.3010G>A (p.Asp1004Asn) n.2716G>A c.3319G>A (p.Asp1107Asn) n.3466G>A c.2512G>A (p.Asp838Asn) c.2899G>A (p.Asp967Asn) c.2263G>A (p.Asp755Asn) c.-677G>A (n.-677G>A) | |
5 | g.177211718G>C | CA362323665 | NSD1 | c.2446G>C (p.Asp816His) n.612+7426G>C n.2902G>C c.3010G>C (p.Asp1004His) n.2716G>C c.3319G>C (p.Asp1107His) n.3466G>C c.2512G>C (p.Asp838His) c.2899G>C (p.Asp967His) c.2263G>C (p.Asp755His) c.-677G>C (n.-677G>C) | |
5 | g.177211718G>T | CA362323668 | NSD1 | c.2446G>T (p.Asp816Tyr) n.612+7426G>T n.2902G>T c.3010G>T (p.Asp1004Tyr) n.2716G>T c.3319G>T (p.Asp1107Tyr) n.3466G>T c.2512G>T (p.Asp838Tyr) c.2899G>T (p.Asp967Tyr) c.2263G>T (p.Asp755Tyr) c.-677G>T (n.-677G>T) | |
5 | g.177211719A>C | CA362323671 | NSD1 | c.2447A>C (p.Asp816Ala) n.612+7427A>C n.2903A>C c.3011A>C (p.Asp1004Ala) n.2717A>C c.3320A>C (p.Asp1107Ala) n.3467A>C c.2513A>C (p.Asp838Ala) c.2900A>C (p.Asp967Ala) c.2264A>C (p.Asp755Ala) c.-676A>C (n.-676A>C) | |
5 | g.177211719A>G | CA362323673 | NSD1 | c.2447A>G (p.Asp816Gly) n.612+7427A>G n.2903A>G c.3011A>G (p.Asp1004Gly) n.2717A>G c.3320A>G (p.Asp1107Gly) n.3467A>G c.2513A>G (p.Asp838Gly) c.2900A>G (p.Asp967Gly) c.2264A>G (p.Asp755Gly) c.-676A>G (n.-676A>G) | |
5 | g.177211719A>T | CA362323675 | NSD1 | c.2447A>T (p.Asp816Val) n.612+7427A>T n.2903A>T c.3011A>T (p.Asp1004Val) n.2717A>T c.3320A>T (p.Asp1107Val) n.3467A>T c.2513A>T (p.Asp838Val) c.2900A>T (p.Asp967Val) c.2264A>T (p.Asp755Val) c.-676A>T (n.-676A>T) | |
5 | g.177211720T>A | CA362323680 | NSD1 | c.2448T>A (p.Asp816Glu) n.612+7428T>A n.2904T>A c.3012T>A (p.Asp1004Glu) n.2718T>A c.3321T>A (p.Asp1107Glu) n.3468T>A c.2514T>A (p.Asp838Glu) c.2901T>A (p.Asp967Glu) c.2265T>A (p.Asp755Glu) c.-675T>A (n.-675T>A) | |
5 | g.177211720T>C | CA447961069 | NSD1 | c.2448T>C (p.Asp816=) n.612+7428T>C n.2904T>C c.3012T>C (p.Asp1004=) n.2718T>C c.3321T>C (p.Asp1107=) n.3468T>C c.2514T>C (p.Asp838=) c.2901T>C (p.Asp967=) c.2265T>C (p.Asp755=) c.-675T>C (n.-675T>C) | ClinVar |
5 | g.177211720T>G | CA362323682 | NSD1 | c.2448T>G (p.Asp816Glu) n.612+7428T>G n.2904T>G c.3012T>G (p.Asp1004Glu) n.2718T>G c.3321T>G (p.Asp1107Glu) n.3468T>G c.2514T>G (p.Asp838Glu) c.2901T>G (p.Asp967Glu) c.2265T>G (p.Asp755Glu) c.-675T>G (n.-675T>G) | |
5 | g.177211720_177211721insA | CA2550006446 | NSD1 | c.2448_2449insA (p.Val817SerfsTer5) n.612+7428_612+7429insA n.2904_2905insA c.3012_3013insA (p.Val1005SerfsTer5) n.2718_2719insA c.3321_3322insA (p.Val1108SerfsTer5) n.3468_3469insA c.2514_2515insA (p.Val839SerfsTer5) c.2901_2902insA (p.Val968SerfsTer5) c.2265_2266insA (p.Val756SerfsTer5) c.-675_-674insA (n.-675_-674insA) | |
5 | g.177211721G>A | CA362323688 | NSD1 | c.2449G>A (p.Val817Met) n.612+7429G>A n.2905G>A c.3013G>A (p.Val1005Met) n.2719G>A c.3322G>A (p.Val1108Met) n.3469G>A c.2515G>A (p.Val839Met) c.2902G>A (p.Val968Met) c.2266G>A (p.Val756Met) c.-674G>A (n.-674G>A) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211721G>C | CA362323690 | NSD1 | c.2449G>C (p.Val817Leu) n.612+7429G>C n.2905G>C c.3013G>C (p.Val1005Leu) n.2719G>C c.3322G>C (p.Val1108Leu) n.3469G>C c.2515G>C (p.Val839Leu) c.2902G>C (p.Val968Leu) c.2266G>C (p.Val756Leu) c.-674G>C (n.-674G>C) | |
5 | g.177211721G= | CA1603478742 | NSD1 | c.2449G= (p.Val817=) n.612+7429G= n.2905G= c.3013G= (p.Val1005=) n.2719G= c.3322G= (p.Val1108=) n.3469G= c.2515G= (p.Val839=) c.2902G= (p.Val968=) c.2266G= (p.Val756=) c.-674G= (n.-674G=) | |
5 | g.177211721G>T | CA362323685 | NSD1 | c.2449G>T (p.Val817Leu) n.612+7429G>T n.2905G>T c.3013G>T (p.Val1005Leu) n.2719G>T c.3322G>T (p.Val1108Leu) n.3469G>T c.2515G>T (p.Val839Leu) c.2902G>T (p.Val968Leu) c.2266G>T (p.Val756Leu) c.-674G>T (n.-674G>T) | |
5 | g.177211722T>A | CA362323698 | NSD1 | c.2450T>A (p.Val817Glu) n.612+7430T>A n.2906T>A c.3014T>A (p.Val1005Glu) n.2720T>A c.3323T>A (p.Val1108Glu) n.3470T>A c.2516T>A (p.Val839Glu) c.2903T>A (p.Val968Glu) c.2267T>A (p.Val756Glu) c.-673T>A (n.-673T>A) | |
5 | g.177211722T>C | CA362323693 | NSD1 | c.2450T>C (p.Val817Ala) n.612+7430T>C n.2906T>C c.3014T>C (p.Val1005Ala) n.2720T>C c.3323T>C (p.Val1108Ala) n.3470T>C c.2516T>C (p.Val839Ala) c.2903T>C (p.Val968Ala) c.2267T>C (p.Val756Ala) c.-673T>C (n.-673T>C) | ClinVar dbSNP |
5 | g.177211722T>G | CA3577415 | NSD1 | c.2450T>G (p.Val817Gly) n.612+7430T>G n.2906T>G c.3014T>G (p.Val1005Gly) n.2720T>G c.3323T>G (p.Val1108Gly) n.3470T>G c.2516T>G (p.Val839Gly) c.2903T>G (p.Val968Gly) c.2267T>G (p.Val756Gly) c.-673T>G (n.-673T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211722T= | CA1603478746 | NSD1 | c.2450T= (p.Val817=) n.612+7430T= n.2906T= c.3014T= (p.Val1005=) n.2720T= c.3323T= (p.Val1108=) n.3470T= c.2516T= (p.Val839=) c.2903T= (p.Val968=) c.2267T= (p.Val756=) c.-673T= (n.-673T=) | |
5 | g.177211723G>A | CA447961070 | NSD1 | c.2451G>A (p.Val817=) n.612+7431G>A n.2907G>A c.3015G>A (p.Val1005=) n.2721G>A c.3324G>A (p.Val1108=) n.3471G>A c.2517G>A (p.Val839=) c.2904G>A (p.Val968=) c.2268G>A (p.Val756=) c.-672G>A (n.-672G>A) | dbSNP |
5 | g.177211723G>C | CA447961071 | NSD1 | c.2451G>C (p.Val817=) n.612+7431G>C n.2907G>C c.3015G>C (p.Val1005=) n.2721G>C c.3324G>C (p.Val1108=) n.3471G>C c.2517G>C (p.Val839=) c.2904G>C (p.Val968=) c.2268G>C (p.Val756=) c.-672G>C (n.-672G>C) | |
5 | g.177211723G>T | CA447961072 | NSD1 | c.2451G>T (p.Val817=) n.612+7431G>T n.2907G>T c.3015G>T (p.Val1005=) n.2721G>T c.3324G>T (p.Val1108=) n.3471G>T c.2517G>T (p.Val839=) c.2904G>T (p.Val968=) c.2268G>T (p.Val756=) c.-672G>T (n.-672G>T) | |
5 | g.177211723_177211725del | CA2501532953 | NSD1 | c.2451_2453del (p.His818del) n.612+7431_612+7433del n.2907_2909del c.3015_3017del (p.His1006del) n.2721_2723del c.3324_3326del (p.His1109del) n.3471_3473del c.2517_2519del (p.His840del) c.2904_2906del (p.His969del) c.2268_2270del (p.His757del) c.-672_-670del (n.-672_-670del) | |
5 | g.177211724C>A | CA362323702 | NSD1 | c.2452C>A (p.His818Asn) n.612+7432C>A n.2908C>A c.3016C>A (p.His1006Asn) n.2722C>A c.3325C>A (p.His1109Asn) n.3472C>A c.2518C>A (p.His840Asn) c.2905C>A (p.His969Asn) c.2269C>A (p.His757Asn) c.-671C>A (n.-671C>A) | |
5 | g.177211724C= | CA1603478749 | NSD1 | c.2452C= (p.His818=) n.612+7432C= n.2908C= c.3016C= (p.His1006=) n.2722C= c.3325C= (p.His1109=) n.3472C= c.2518C= (p.His840=) c.2905C= (p.His969=) c.2269C= (p.His757=) c.-671C= (n.-671C=) | |
5 | g.177211724C>G | CA362323705 | NSD1 | c.2452C>G (p.His818Asp) n.612+7432C>G n.2908C>G c.3016C>G (p.His1006Asp) n.2722C>G c.3325C>G (p.His1109Asp) n.3472C>G c.2518C>G (p.His840Asp) c.2905C>G (p.His969Asp) c.2269C>G (p.His757Asp) c.-671C>G (n.-671C>G) | |
5 | g.177211724C>T | CA362323709 | NSD1 | c.2452C>T (p.His818Tyr) n.612+7432C>T n.2908C>T c.3016C>T (p.His1006Tyr) n.2722C>T c.3325C>T (p.His1109Tyr) n.3472C>T c.2518C>T (p.His840Tyr) c.2905C>T (p.His969Tyr) c.2269C>T (p.His757Tyr) c.-671C>T (n.-671C>T) | dbSNP |
5 | g.177211725A>C | CA362323713 | NSD1 | c.2453A>C (p.His818Pro) n.612+7433A>C n.2909A>C c.3017A>C (p.His1006Pro) n.2723A>C c.3326A>C (p.His1109Pro) n.3473A>C c.2519A>C (p.His840Pro) c.2906A>C (p.His969Pro) c.2270A>C (p.His757Pro) c.-670A>C (n.-670A>C) | |
5 | g.177211725A>G | CA362323716 | NSD1 | c.2453A>G (p.His818Arg) n.612+7433A>G n.2909A>G c.3017A>G (p.His1006Arg) n.2723A>G c.3326A>G (p.His1109Arg) n.3473A>G c.2519A>G (p.His840Arg) c.2906A>G (p.His969Arg) c.2270A>G (p.His757Arg) c.-670A>G (n.-670A>G) | |
5 | g.177211725A>T | CA362323719 | NSD1 | c.2453A>T (p.His818Leu) n.612+7433A>T n.2909A>T c.3017A>T (p.His1006Leu) n.2723A>T c.3326A>T (p.His1109Leu) n.3473A>T c.2519A>T (p.His840Leu) c.2906A>T (p.His969Leu) c.2270A>T (p.His757Leu) c.-670A>T (n.-670A>T) | dbSNP |
5 | g.177211726T>A | CA362323723 | NSD1 | c.2454T>A (p.His818Gln) n.612+7434T>A n.2910T>A c.3018T>A (p.His1006Gln) n.2724T>A c.3327T>A (p.His1109Gln) n.3474T>A c.2520T>A (p.His840Gln) c.2907T>A (p.His969Gln) c.2271T>A (p.His757Gln) c.-669T>A (n.-669T>A) | |
5 | g.177211726T>C | CA447961073 | NSD1 | c.2454T>C (p.His818=) n.612+7434T>C n.2910T>C c.3018T>C (p.His1006=) n.2724T>C c.3327T>C (p.His1109=) n.3474T>C c.2520T>C (p.His840=) c.2907T>C (p.His969=) c.2271T>C (p.His757=) c.-669T>C (n.-669T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211726T>G | CA362323726 | NSD1 | c.2454T>G (p.His818Gln) n.612+7434T>G n.2910T>G c.3018T>G (p.His1006Gln) n.2724T>G c.3327T>G (p.His1109Gln) n.3474T>G c.2520T>G (p.His840Gln) c.2907T>G (p.His969Gln) c.2271T>G (p.His757Gln) c.-669T>G (n.-669T>G) | |
5 | g.177211726T= | CA1603478755 | NSD1 | c.2454T= (p.His818=) n.612+7434T= n.2910T= c.3018T= (p.His1006=) n.2724T= c.3327T= (p.His1109=) n.3474T= c.2520T= (p.His840=) c.2907T= (p.His969=) c.2271T= (p.His757=) c.-669T= (n.-669T=) | |
5 | g.177211727T>A | CA362323732 | NSD1 | c.2455T>A (p.Phe819Ile) n.612+7435T>A n.2911T>A c.3019T>A (p.Phe1007Ile) n.2725T>A c.3328T>A (p.Phe1110Ile) n.3475T>A c.2521T>A (p.Phe841Ile) c.2908T>A (p.Phe970Ile) c.2272T>A (p.Phe758Ile) c.-668T>A (n.-668T>A) | |
5 | g.177211727T>C | CA362323735 | NSD1 | c.2455T>C (p.Phe819Leu) n.612+7435T>C n.2911T>C c.3019T>C (p.Phe1007Leu) n.2725T>C c.3328T>C (p.Phe1110Leu) n.3475T>C c.2521T>C (p.Phe841Leu) c.2908T>C (p.Phe970Leu) c.2272T>C (p.Phe758Leu) c.-668T>C (n.-668T>C) | |
5 | g.177211727T>G | CA362323738 | NSD1 | c.2455T>G (p.Phe819Val) n.612+7435T>G n.2911T>G c.3019T>G (p.Phe1007Val) n.2725T>G c.3328T>G (p.Phe1110Val) n.3475T>G c.2521T>G (p.Phe841Val) c.2908T>G (p.Phe970Val) c.2272T>G (p.Phe758Val) c.-668T>G (n.-668T>G) | |
5 | g.177211728T>A | CA362323742 | NSD1 | c.2456T>A (p.Phe819Tyr) n.612+7436T>A n.2912T>A c.3020T>A (p.Phe1007Tyr) n.2726T>A c.3329T>A (p.Phe1110Tyr) n.3476T>A c.2522T>A (p.Phe841Tyr) c.2909T>A (p.Phe970Tyr) c.2273T>A (p.Phe758Tyr) c.-667T>A (n.-667T>A) | |
5 | g.177211728T>C | CA362323750 | NSD1 | c.2456T>C (p.Phe819Ser) n.612+7436T>C n.2912T>C c.3020T>C (p.Phe1007Ser) n.2726T>C c.3329T>C (p.Phe1110Ser) n.3476T>C c.2522T>C (p.Phe841Ser) c.2909T>C (p.Phe970Ser) c.2273T>C (p.Phe758Ser) c.-667T>C (n.-667T>C) | |
5 | g.177211728T>G | CA362323747 | NSD1 | c.2456T>G (p.Phe819Cys) n.612+7436T>G n.2912T>G c.3020T>G (p.Phe1007Cys) n.2726T>G c.3329T>G (p.Phe1110Cys) n.3476T>G c.2522T>G (p.Phe841Cys) c.2909T>G (p.Phe970Cys) c.2273T>G (p.Phe758Cys) c.-667T>G (n.-667T>G) | |
5 | g.177211729del | CA2509276686 | NSD1 | c.2457del (p.Phe819LeufsTer?) n.612+7437del n.2913del c.3021del (p.Phe1007LeufsTer?) n.2727del c.3330del (p.Phe1110LeufsTer?) n.3477del c.2523del (p.Phe841LeufsTer?) c.2910del (p.Phe970LeufsTer?) c.2274del (p.Phe758LeufsTer?) c.-666del (n.-666del) | |
5 | g.177211729C>A | CA362323755 | NSD1 | c.2457C>A (p.Phe819Leu) n.612+7437C>A n.2913C>A c.3021C>A (p.Phe1007Leu) n.2727C>A c.3330C>A (p.Phe1110Leu) n.3477C>A c.2523C>A (p.Phe841Leu) c.2910C>A (p.Phe970Leu) c.2274C>A (p.Phe758Leu) c.-666C>A (n.-666C>A) | COSMIC COSMIC |
5 | g.177211729C= | CA1603478765 | NSD1 | c.2457C= (p.Phe819=) n.612+7437C= n.2913C= c.3021C= (p.Phe1007=) n.2727C= c.3330C= (p.Phe1110=) n.3477C= c.2523C= (p.Phe841=) c.2910C= (p.Phe970=) c.2274C= (p.Phe758=) c.-666C= (n.-666C=) | |
5 | g.177211729C>G | CA362323758 | NSD1 | c.2457C>G (p.Phe819Leu) n.612+7437C>G n.2913C>G c.3021C>G (p.Phe1007Leu) n.2727C>G c.3330C>G (p.Phe1110Leu) n.3477C>G c.2523C>G (p.Phe841Leu) c.2910C>G (p.Phe970Leu) c.2274C>G (p.Phe758Leu) c.-666C>G (n.-666C>G) | dbSNP |
5 | g.177211729C>T | CA3577416 | NSD1 | c.2457C>T (p.Phe819=) n.612+7437C>T n.2913C>T c.3021C>T (p.Phe1007=) n.2727C>T c.3330C>T (p.Phe1110=) n.3477C>T c.2523C>T (p.Phe841=) c.2910C>T (p.Phe970=) c.2274C>T (p.Phe758=) c.-666C>T (n.-666C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211730G>A | CA3577417 | NSD1 | c.2458G>A (p.Asp820Asn) n.612+7438G>A n.2914G>A c.3022G>A (p.Asp1008Asn) n.2728G>A c.3331G>A (p.Asp1111Asn) n.3478G>A c.2524G>A (p.Asp842Asn) c.2911G>A (p.Asp971Asn) c.2275G>A (p.Asp759Asn) c.-665G>A (n.-665G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211730G>C | CA362323767 | NSD1 | c.2458G>C (p.Asp820His) n.612+7438G>C n.2914G>C c.3022G>C (p.Asp1008His) n.2728G>C c.3331G>C (p.Asp1111His) n.3478G>C c.2524G>C (p.Asp842His) c.2911G>C (p.Asp971His) c.2275G>C (p.Asp759His) c.-665G>C (n.-665G>C) | |
5 | g.177211730G= | CA1603478782 | NSD1 | c.2458G= (p.Asp820=) n.612+7438G= n.2914G= c.3022G= (p.Asp1008=) n.2728G= c.3331G= (p.Asp1111=) n.3478G= c.2524G= (p.Asp842=) c.2911G= (p.Asp971=) c.2275G= (p.Asp759=) c.-665G= (n.-665G=) | |
5 | g.177211730G>T | CA362323769 | NSD1 | c.2458G>T (p.Asp820Tyr) n.612+7438G>T n.2914G>T c.3022G>T (p.Asp1008Tyr) n.2728G>T c.3331G>T (p.Asp1111Tyr) n.3478G>T c.2524G>T (p.Asp842Tyr) c.2911G>T (p.Asp971Tyr) c.2275G>T (p.Asp759Tyr) c.-665G>T (n.-665G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211731A= | CA1603478784 | NSD1 | c.2459A= (p.Asp820=) n.612+7439A= n.2915A= c.3023A= (p.Asp1008=) n.2729A= c.3332A= (p.Asp1111=) n.3479A= c.2525A= (p.Asp842=) c.2912A= (p.Asp971=) c.2276A= (p.Asp759=) c.-664A= (n.-664A=) | |
5 | g.177211731A>C | CA362323774 | NSD1 | c.2459A>C (p.Asp820Ala) n.612+7439A>C n.2915A>C c.3023A>C (p.Asp1008Ala) n.2729A>C c.3332A>C (p.Asp1111Ala) n.3479A>C c.2525A>C (p.Asp842Ala) c.2912A>C (p.Asp971Ala) c.2276A>C (p.Asp759Ala) c.-664A>C (n.-664A>C) | |
5 | g.177211731A>G | CA362323776 | NSD1 | c.2459A>G (p.Asp820Gly) n.612+7439A>G n.2915A>G c.3023A>G (p.Asp1008Gly) n.2729A>G c.3332A>G (p.Asp1111Gly) n.3479A>G c.2525A>G (p.Asp842Gly) c.2912A>G (p.Asp971Gly) c.2276A>G (p.Asp759Gly) c.-664A>G (n.-664A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211731A>T | CA362323778 | NSD1 | c.2459A>T (p.Asp820Val) n.612+7439A>T n.2915A>T c.3023A>T (p.Asp1008Val) n.2729A>T c.3332A>T (p.Asp1111Val) n.3479A>T c.2525A>T (p.Asp842Val) c.2912A>T (p.Asp971Val) c.2276A>T (p.Asp759Val) c.-664A>T (n.-664A>T) | |
5 | g.177211732T>A | CA362323783 | NSD1 | c.2460T>A (p.Asp820Glu) n.612+7440T>A n.2916T>A c.3024T>A (p.Asp1008Glu) n.2730T>A c.3333T>A (p.Asp1111Glu) n.3480T>A c.2526T>A (p.Asp842Glu) c.2913T>A (p.Asp971Glu) c.2277T>A (p.Asp759Glu) c.-663T>A (n.-663T>A) | |
5 | g.177211732T>C | CA447961074 | NSD1 | c.2460T>C (p.Asp820=) n.612+7440T>C n.2916T>C c.3024T>C (p.Asp1008=) n.2730T>C c.3333T>C (p.Asp1111=) n.3480T>C c.2526T>C (p.Asp842=) c.2913T>C (p.Asp971=) c.2277T>C (p.Asp759=) c.-663T>C (n.-663T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211732T>G | CA362323785 | NSD1 | c.2460T>G (p.Asp820Glu) n.612+7440T>G n.2916T>G c.3024T>G (p.Asp1008Glu) n.2730T>G c.3333T>G (p.Asp1111Glu) n.3480T>G c.2526T>G (p.Asp842Glu) c.2913T>G (p.Asp971Glu) c.2277T>G (p.Asp759Glu) c.-663T>G (n.-663T>G) | dbSNP |
5 | g.177211732T= | CA1603478788 | NSD1 | c.2460T= (p.Asp820=) n.612+7440T= n.2916T= c.3024T= (p.Asp1008=) n.2730T= c.3333T= (p.Asp1111=) n.3480T= c.2526T= (p.Asp842=) c.2913T= (p.Asp971=) c.2277T= (p.Asp759=) c.-663T= (n.-663T=) | |
5 | g.177211733A= | CA1603478789 | NSD1 | c.2461A= (p.Ser821=) n.612+7441A= n.2917A= c.3025A= (p.Ser1009=) n.2731A= c.3334A= (p.Ser1112=) n.3481A= c.2527A= (p.Ser843=) c.2914A= (p.Ser972=) c.2278A= (p.Ser760=) c.-662A= (n.-662A=) | |
5 | g.177211733A>C | CA362323794 | NSD1 | c.2461A>C (p.Ser821Arg) n.612+7441A>C n.2917A>C c.3025A>C (p.Ser1009Arg) n.2731A>C c.3334A>C (p.Ser1112Arg) n.3481A>C c.2527A>C (p.Ser843Arg) c.2914A>C (p.Ser972Arg) c.2278A>C (p.Ser760Arg) c.-662A>C (n.-662A>C) | |
5 | g.177211733A>G | CA3577418 | NSD1 | c.2461A>G (p.Ser821Gly) n.612+7441A>G n.2917A>G c.3025A>G (p.Ser1009Gly) n.2731A>G c.3334A>G (p.Ser1112Gly) n.3481A>G c.2527A>G (p.Ser843Gly) c.2914A>G (p.Ser972Gly) c.2278A>G (p.Ser760Gly) c.-662A>G (n.-662A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211733A>T | CA362323792 | NSD1 | c.2461A>T (p.Ser821Cys) n.612+7441A>T n.2917A>T c.3025A>T (p.Ser1009Cys) n.2731A>T c.3334A>T (p.Ser1112Cys) n.3481A>T c.2527A>T (p.Ser843Cys) c.2914A>T (p.Ser972Cys) c.2278A>T (p.Ser760Cys) c.-662A>T (n.-662A>T) | |
5 | g.177211734G>A | CA132831345 | NSD1 | c.2462G>A (p.Ser821Asn) n.612+7442G>A n.2918G>A c.3026G>A (p.Ser1009Asn) n.2732G>A c.3335G>A (p.Ser1112Asn) n.3482G>A c.2528G>A (p.Ser843Asn) c.2915G>A (p.Ser972Asn) c.2279G>A (p.Ser760Asn) c.-661G>A (n.-661G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211734G>C | CA362323802 | NSD1 | c.2462G>C (p.Ser821Thr) n.612+7442G>C n.2918G>C c.3026G>C (p.Ser1009Thr) n.2732G>C c.3335G>C (p.Ser1112Thr) n.3482G>C c.2528G>C (p.Ser843Thr) c.2915G>C (p.Ser972Thr) c.2279G>C (p.Ser760Thr) c.-661G>C (n.-661G>C) | |
5 | g.177211734G= | CA1603478792 | NSD1 | c.2462G= (p.Ser821=) n.612+7442G= n.2918G= c.3026G= (p.Ser1009=) n.2732G= c.3335G= (p.Ser1112=) n.3482G= c.2528G= (p.Ser843=) c.2915G= (p.Ser972=) c.2279G= (p.Ser760=) c.-661G= (n.-661G=) | |
5 | g.177211734G>T | CA362323805 | NSD1 | c.2462G>T (p.Ser821Ile) n.612+7442G>T n.2918G>T c.3026G>T (p.Ser1009Ile) n.2732G>T c.3335G>T (p.Ser1112Ile) n.3482G>T c.2528G>T (p.Ser843Ile) c.2915G>T (p.Ser972Ile) c.2279G>T (p.Ser760Ile) c.-661G>T (n.-661G>T) | |
5 | g.177211735C>A | CA362323807 | NSD1 | c.2463C>A (p.Ser821Arg) n.612+7443C>A n.2919C>A c.3027C>A (p.Ser1009Arg) n.2733C>A c.3336C>A (p.Ser1112Arg) n.3483C>A c.2529C>A (p.Ser843Arg) c.2916C>A (p.Ser972Arg) c.2280C>A (p.Ser760Arg) c.-660C>A (n.-660C>A) | dbSNP |
5 | g.177211735C= | CA1603478796 | NSD1 | c.2463C= (p.Ser821=) n.612+7443C= n.2919C= c.3027C= (p.Ser1009=) n.2733C= c.3336C= (p.Ser1112=) n.3483C= c.2529C= (p.Ser843=) c.2916C= (p.Ser972=) c.2280C= (p.Ser760=) c.-660C= (n.-660C=) | |
5 | g.177211735C>G | CA132831347 | NSD1 | c.2463C>G (p.Ser821Arg) n.612+7443C>G n.2919C>G c.3027C>G (p.Ser1009Arg) n.2733C>G c.3336C>G (p.Ser1112Arg) n.3483C>G c.2529C>G (p.Ser843Arg) c.2916C>G (p.Ser972Arg) c.2280C>G (p.Ser760Arg) c.-660C>G (n.-660C>G) | dbSNP |
5 | g.177211735C>T | CA447961075 | NSD1 | c.2463C>T (p.Ser821=) n.612+7443C>T n.2919C>T c.3027C>T (p.Ser1009=) n.2733C>T c.3336C>T (p.Ser1112=) n.3483C>T c.2529C>T (p.Ser843=) c.2916C>T (p.Ser972=) c.2280C>T (p.Ser760=) c.-660C>T (n.-660C>T) | |
5 | g.177211736A>C | CA362323817 | NSD1 | c.2464A>C (p.Lys822Gln) n.612+7444A>C n.2920A>C c.3028A>C (p.Lys1010Gln) n.2734A>C c.3337A>C (p.Lys1113Gln) n.3484A>C c.2530A>C (p.Lys844Gln) c.2917A>C (p.Lys973Gln) c.2281A>C (p.Lys761Gln) c.-659A>C (n.-659A>C) | |
5 | g.177211736A>G | CA362323819 | NSD1 | c.2464A>G (p.Lys822Glu) n.612+7444A>G n.2920A>G c.3028A>G (p.Lys1010Glu) n.2734A>G c.3337A>G (p.Lys1113Glu) n.3484A>G c.2530A>G (p.Lys844Glu) c.2917A>G (p.Lys973Glu) c.2281A>G (p.Lys761Glu) c.-659A>G (n.-659A>G) | |
5 | g.177211736A>T | CA362323825 | NSD1 | c.2464A>T (p.Lys822Ter) n.612+7444A>T n.2920A>T c.3028A>T (p.Lys1010Ter) n.2734A>T c.3337A>T (p.Lys1113Ter) n.3484A>T c.2530A>T (p.Lys844Ter) c.2917A>T (p.Lys973Ter) c.2281A>T (p.Lys761Ter) c.-659A>T (n.-659A>T) | |
5 | g.177211737A>C | CA362323827 | NSD1 | c.2465A>C (p.Lys822Thr) n.612+7445A>C n.2921A>C c.3029A>C (p.Lys1010Thr) n.2735A>C c.3338A>C (p.Lys1113Thr) n.3485A>C c.2531A>C (p.Lys844Thr) c.2918A>C (p.Lys973Thr) c.2282A>C (p.Lys761Thr) c.-658A>C (n.-658A>C) | |
5 | g.177211737A>G | CA362323829 | NSD1 | c.2465A>G (p.Lys822Arg) n.612+7445A>G n.2921A>G c.3029A>G (p.Lys1010Arg) n.2735A>G c.3338A>G (p.Lys1113Arg) n.3485A>G c.2531A>G (p.Lys844Arg) c.2918A>G (p.Lys973Arg) c.2282A>G (p.Lys761Arg) c.-658A>G (n.-658A>G) | |
5 | g.177211737A>T | CA362323831 | NSD1 | c.2465A>T (p.Lys822Met) n.612+7445A>T n.2921A>T c.3029A>T (p.Lys1010Met) n.2735A>T c.3338A>T (p.Lys1113Met) n.3485A>T c.2531A>T (p.Lys844Met) c.2918A>T (p.Lys973Met) c.2282A>T (p.Lys761Met) c.-658A>T (n.-658A>T) | |
5 | g.177211738G>A | CA447961076 | NSD1 | c.2466G>A (p.Lys822=) n.612+7446G>A n.2922G>A c.3030G>A (p.Lys1010=) n.2736G>A c.3339G>A (p.Lys1113=) n.3486G>A c.2532G>A (p.Lys844=) c.2919G>A (p.Lys973=) c.2283G>A (p.Lys761=) c.-657G>A (n.-657G>A) | |
5 | g.177211738G>C | CA362323836 | NSD1 | c.2466G>C (p.Lys822Asn) n.612+7446G>C n.2922G>C c.3030G>C (p.Lys1010Asn) n.2736G>C c.3339G>C (p.Lys1113Asn) n.3486G>C c.2532G>C (p.Lys844Asn) c.2919G>C (p.Lys973Asn) c.2283G>C (p.Lys761Asn) c.-657G>C (n.-657G>C) | |
5 | g.177211738G>T | CA362323840 | NSD1 | c.2466G>T (p.Lys822Asn) n.612+7446G>T n.2922G>T c.3030G>T (p.Lys1010Asn) n.2736G>T c.3339G>T (p.Lys1113Asn) n.3486G>T c.2532G>T (p.Lys844Asn) c.2919G>T (p.Lys973Asn) c.2283G>T (p.Lys761Asn) c.-657G>T (n.-657G>T) | |
5 | g.177211739G>A | CA362323848 | NSD1 | c.2467G>A (p.Val823Ile) n.612+7447G>A n.2923G>A c.3031G>A (p.Val1011Ile) n.2737G>A c.3340G>A (p.Val1114Ile) n.3487G>A c.2533G>A (p.Val845Ile) c.2920G>A (p.Val974Ile) c.2284G>A (p.Val762Ile) c.-656G>A (n.-656G>A) | |
5 | g.177211739G>C | CA362323850 | NSD1 | c.2467G>C (p.Val823Leu) n.612+7447G>C n.2923G>C c.3031G>C (p.Val1011Leu) n.2737G>C c.3340G>C (p.Val1114Leu) n.3487G>C c.2533G>C (p.Val845Leu) c.2920G>C (p.Val974Leu) c.2284G>C (p.Val762Leu) c.-656G>C (n.-656G>C) | |
5 | g.177211739G>T | CA362323845 | NSD1 | c.2467G>T (p.Val823Phe) n.612+7447G>T n.2923G>T c.3031G>T (p.Val1011Phe) n.2737G>T c.3340G>T (p.Val1114Phe) n.3487G>T c.2533G>T (p.Val845Phe) c.2920G>T (p.Val974Phe) c.2284G>T (p.Val762Phe) c.-656G>T (n.-656G>T) | ClinVar |
5 | g.177211740T>A | CA362323854 | NSD1 | c.2468T>A (p.Val823Asp) n.612+7448T>A n.2924T>A c.3032T>A (p.Val1011Asp) n.2738T>A c.3341T>A (p.Val1114Asp) n.3488T>A c.2534T>A (p.Val845Asp) c.2921T>A (p.Val974Asp) c.2285T>A (p.Val762Asp) c.-655T>A (n.-655T>A) | |
5 | g.177211740T>C | CA362323856 | NSD1 | c.2468T>C (p.Val823Ala) n.612+7448T>C n.2924T>C c.3032T>C (p.Val1011Ala) n.2738T>C c.3341T>C (p.Val1114Ala) n.3488T>C c.2534T>C (p.Val845Ala) c.2921T>C (p.Val974Ala) c.2285T>C (p.Val762Ala) c.-655T>C (n.-655T>C) | |
5 | g.177211740T>G | CA362323859 | NSD1 | c.2468T>G (p.Val823Gly) n.612+7448T>G n.2924T>G c.3032T>G (p.Val1011Gly) n.2738T>G c.3341T>G (p.Val1114Gly) n.3488T>G c.2534T>G (p.Val845Gly) c.2921T>G (p.Val974Gly) c.2285T>G (p.Val762Gly) c.-655T>G (n.-655T>G) | |
5 | g.177211741T>A | CA447961077 | NSD1 | c.2469T>A (p.Val823=) n.612+7449T>A n.2925T>A c.3033T>A (p.Val1011=) n.2739T>A c.3342T>A (p.Val1114=) n.3489T>A c.2535T>A (p.Val845=) c.2922T>A (p.Val974=) c.2286T>A (p.Val762=) c.-654T>A (n.-654T>A) | |
5 | g.177211741T>C | CA447961078 | NSD1 | c.2469T>C (p.Val823=) n.612+7449T>C n.2925T>C c.3033T>C (p.Val1011=) n.2739T>C c.3342T>C (p.Val1114=) n.3489T>C c.2535T>C (p.Val845=) c.2922T>C (p.Val974=) c.2286T>C (p.Val762=) c.-654T>C (n.-654T>C) | |
5 | g.177211741T>G | CA447961079 | NSD1 | c.2469T>G (p.Val823=) n.612+7449T>G n.2925T>G c.3033T>G (p.Val1011=) n.2739T>G c.3342T>G (p.Val1114=) n.3489T>G c.2535T>G (p.Val845=) c.2922T>G (p.Val974=) c.2286T>G (p.Val762=) c.-654T>G (n.-654T>G) | |
5 | g.177211742A= | CA1603478800 | NSD1 | c.2470A= (p.Lys824=) n.612+7450A= n.2926A= c.3034A= (p.Lys1012=) n.2740A= c.3343A= (p.Lys1115=) n.3490A= c.2536A= (p.Lys846=) c.2923A= (p.Lys975=) c.2287A= (p.Lys763=) c.-653A= (n.-653A=) | |
5 | g.177211742A>C | CA362323863 | NSD1 | c.2470A>C (p.Lys824Gln) n.612+7450A>C n.2926A>C c.3034A>C (p.Lys1012Gln) n.2740A>C c.3343A>C (p.Lys1115Gln) n.3490A>C c.2536A>C (p.Lys846Gln) c.2923A>C (p.Lys975Gln) c.2287A>C (p.Lys763Gln) c.-653A>C (n.-653A>C) | |
5 | g.177211742A>G | CA362323865 | NSD1 | c.2470A>G (p.Lys824Glu) n.612+7450A>G n.2926A>G c.3034A>G (p.Lys1012Glu) n.2740A>G c.3343A>G (p.Lys1115Glu) n.3490A>G c.2536A>G (p.Lys846Glu) c.2923A>G (p.Lys975Glu) c.2287A>G (p.Lys763Glu) c.-653A>G (n.-653A>G) | dbSNP gnomAD v2 |
5 | g.177211742A>T | CA362323868 | NSD1 | c.2470A>T (p.Lys824Ter) n.612+7450A>T n.2926A>T c.3034A>T (p.Lys1012Ter) n.2740A>T c.3343A>T (p.Lys1115Ter) n.3490A>T c.2536A>T (p.Lys846Ter) c.2923A>T (p.Lys975Ter) c.2287A>T (p.Lys763Ter) c.-653A>T (n.-653A>T) | |
5 | g.177211743A= | CA1603478808 | NSD1 | c.2471A= (p.Lys824=) n.612+7451A= n.2927A= c.3035A= (p.Lys1012=) n.2741A= c.3344A= (p.Lys1115=) n.3491A= c.2537A= (p.Lys846=) c.2924A= (p.Lys975=) c.2288A= (p.Lys763=) c.-652A= (n.-652A=) | |
5 | g.177211743A>C | CA362323876 | NSD1 | c.2471A>C (p.Lys824Thr) n.612+7451A>C n.2927A>C c.3035A>C (p.Lys1012Thr) n.2741A>C c.3344A>C (p.Lys1115Thr) n.3491A>C c.2537A>C (p.Lys846Thr) c.2924A>C (p.Lys975Thr) c.2288A>C (p.Lys763Thr) c.-652A>C (n.-652A>C) | |
5 | g.177211743A>G | CA362323871 | NSD1 | c.2471A>G (p.Lys824Arg) n.612+7451A>G n.2927A>G c.3035A>G (p.Lys1012Arg) n.2741A>G c.3344A>G (p.Lys1115Arg) n.3491A>G c.2537A>G (p.Lys846Arg) c.2924A>G (p.Lys975Arg) c.2288A>G (p.Lys763Arg) c.-652A>G (n.-652A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211743A>T | CA362323874 | NSD1 | c.2471A>T (p.Lys824Met) n.612+7451A>T n.2927A>T c.3035A>T (p.Lys1012Met) n.2741A>T c.3344A>T (p.Lys1115Met) n.3491A>T c.2537A>T (p.Lys846Met) c.2924A>T (p.Lys975Met) c.2288A>T (p.Lys763Met) c.-652A>T (n.-652A>T) | dbSNP |
5 | g.177211744G>A | CA447961080 | NSD1 | c.2472G>A (p.Lys824=) n.612+7452G>A n.2928G>A c.3036G>A (p.Lys1012=) n.2742G>A c.3345G>A (p.Lys1115=) n.3492G>A c.2538G>A (p.Lys846=) c.2925G>A (p.Lys975=) c.2289G>A (p.Lys763=) c.-651G>A (n.-651G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177211744G>C | CA362323880 | NSD1 | c.2472G>C (p.Lys824Asn) n.612+7452G>C n.2928G>C c.3036G>C (p.Lys1012Asn) n.2742G>C c.3345G>C (p.Lys1115Asn) n.3492G>C c.2538G>C (p.Lys846Asn) c.2925G>C (p.Lys975Asn) c.2289G>C (p.Lys763Asn) c.-651G>C (n.-651G>C) | |
5 | g.177211744G= | CA1603478814 | NSD1 | c.2472G= (p.Lys824=) n.612+7452G= n.2928G= c.3036G= (p.Lys1012=) n.2742G= c.3345G= (p.Lys1115=) n.3492G= c.2538G= (p.Lys846=) c.2925G= (p.Lys975=) c.2289G= (p.Lys763=) c.-651G= (n.-651G=) | |
5 | g.177211744G>T | CA362323883 | NSD1 | c.2472G>T (p.Lys824Asn) n.612+7452G>T n.2928G>T c.3036G>T (p.Lys1012Asn) n.2742G>T c.3345G>T (p.Lys1115Asn) n.3492G>T c.2538G>T (p.Lys846Asn) c.2925G>T (p.Lys975Asn) c.2289G>T (p.Lys763Asn) c.-651G>T (n.-651G>T) | |
5 | g.177211745C>A | CA362323889 | NSD1 | c.2473C>A (p.Gln825Lys) n.612+7453C>A n.2929C>A c.3037C>A (p.Gln1013Lys) n.2743C>A c.3346C>A (p.Gln1116Lys) n.3493C>A c.2539C>A (p.Gln847Lys) c.2926C>A (p.Gln976Lys) c.2290C>A (p.Gln764Lys) c.-650C>A (n.-650C>A) | gnomAD v4 |
5 | g.177211745C>G | CA362323892 | NSD1 | c.2473C>G (p.Gln825Glu) n.612+7453C>G n.2929C>G c.3037C>G (p.Gln1013Glu) n.2743C>G c.3346C>G (p.Gln1116Glu) n.3493C>G c.2539C>G (p.Gln847Glu) c.2926C>G (p.Gln976Glu) c.2290C>G (p.Gln764Glu) c.-650C>G (n.-650C>G) | dbSNP |
5 | g.177211745C>T | CA362323893 | NSD1 | c.2473C>T (p.Gln825Ter) n.612+7453C>T n.2929C>T c.3037C>T (p.Gln1013Ter) n.2743C>T c.3346C>T (p.Gln1116Ter) n.3493C>T c.2539C>T (p.Gln847Ter) c.2926C>T (p.Gln976Ter) c.2290C>T (p.Gln764Ter) c.-650C>T (n.-650C>T) | |
5 | g.177211746A= | CA1603478817 | NSD1 | c.2474A= (p.Gln825=) n.612+7454A= n.2930A= c.3038A= (p.Gln1013=) n.2744A= c.3347A= (p.Gln1116=) n.3494A= c.2540A= (p.Gln847=) c.2927A= (p.Gln976=) c.2291A= (p.Gln764=) c.-649A= (n.-649A=) | |
5 | g.177211746A>C | CA362323896 | NSD1 | c.2474A>C (p.Gln825Pro) n.612+7454A>C n.2930A>C c.3038A>C (p.Gln1013Pro) n.2744A>C c.3347A>C (p.Gln1116Pro) n.3494A>C c.2540A>C (p.Gln847Pro) c.2927A>C (p.Gln976Pro) c.2291A>C (p.Gln764Pro) c.-649A>C (n.-649A>C) | |
5 | g.177211746A>G | CA3577419 | NSD1 | c.2474A>G (p.Gln825Arg) n.612+7454A>G n.2930A>G c.3038A>G (p.Gln1013Arg) n.2744A>G c.3347A>G (p.Gln1116Arg) n.3494A>G c.2540A>G (p.Gln847Arg) c.2927A>G (p.Gln976Arg) c.2291A>G (p.Gln764Arg) c.-649A>G (n.-649A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211746A>T | CA362323899 | NSD1 | c.2474A>T (p.Gln825Leu) n.612+7454A>T n.2930A>T c.3038A>T (p.Gln1013Leu) n.2744A>T c.3347A>T (p.Gln1116Leu) n.3494A>T c.2540A>T (p.Gln847Leu) c.2927A>T (p.Gln976Leu) c.2291A>T (p.Gln764Leu) c.-649A>T (n.-649A>T) | |
5 | g.177211747dup | CA2739289455 | NSD1 | c.2475dup (p.Ser826IlefsTer2) n.612+7455dup n.2931dup c.3039dup (p.Ser1014IlefsTer2) n.2745dup c.3348dup (p.Ser1117IlefsTer2) n.3495dup c.2541dup (p.Ser848IlefsTer2) c.2928dup (p.Ser977IlefsTer2) c.2292dup (p.Ser765IlefsTer2) c.-648dup (n.-648dup) | |
5 | g.177211747A= | CA1603478820 | NSD1 | c.2475A= (p.Gln825=) n.612+7455A= n.2931A= c.3039A= (p.Gln1013=) n.2745A= c.3348A= (p.Gln1116=) n.3495A= c.2541A= (p.Gln847=) c.2928A= (p.Gln976=) c.2292A= (p.Gln764=) c.-648A= (n.-648A=) | |
5 | g.177211747A>C | CA362323906 | NSD1 | c.2475A>C (p.Gln825His) n.612+7455A>C n.2931A>C c.3039A>C (p.Gln1013His) n.2745A>C c.3348A>C (p.Gln1116His) n.3495A>C c.2541A>C (p.Gln847His) c.2928A>C (p.Gln976His) c.2292A>C (p.Gln764His) c.-648A>C (n.-648A>C) | gnomAD v4 |
5 | g.177211747A>G | CA447961081 | NSD1 | c.2475A>G (p.Gln825=) n.612+7455A>G n.2931A>G c.3039A>G (p.Gln1013=) n.2745A>G c.3348A>G (p.Gln1116=) n.3495A>G c.2541A>G (p.Gln847=) c.2928A>G (p.Gln976=) c.2292A>G (p.Gln764=) c.-648A>G (n.-648A>G) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
5 | g.177211747A>T | CA362323909 | NSD1 | c.2475A>T (p.Gln825His) n.612+7455A>T n.2931A>T c.3039A>T (p.Gln1013His) n.2745A>T c.3348A>T (p.Gln1116His) n.3495A>T c.2541A>T (p.Gln847His) c.2928A>T (p.Gln976His) c.2292A>T (p.Gln764His) c.-648A>T (n.-648A>T) | gnomAD v4 |
5 | g.177211748T>A | CA362323915 | NSD1 | c.2476T>A (p.Ser826Thr) n.612+7456T>A n.2932T>A c.3040T>A (p.Ser1014Thr) n.2746T>A c.3349T>A (p.Ser1117Thr) n.3496T>A c.2542T>A (p.Ser848Thr) c.2929T>A (p.Ser977Thr) c.2293T>A (p.Ser765Thr) c.-647T>A (n.-647T>A) | |
5 | g.177211748T>C | CA362323922 | NSD1 | c.2476T>C (p.Ser826Pro) n.612+7456T>C n.2932T>C c.3040T>C (p.Ser1014Pro) n.2746T>C c.3349T>C (p.Ser1117Pro) n.3496T>C c.2542T>C (p.Ser848Pro) c.2929T>C (p.Ser977Pro) c.2293T>C (p.Ser765Pro) c.-647T>C (n.-647T>C) | |
5 | g.177211748T>G | CA3577420 | NSD1 | c.2476T>G (p.Ser826Ala) n.612+7456T>G n.2932T>G c.3040T>G (p.Ser1014Ala) n.2746T>G c.3349T>G (p.Ser1117Ala) n.3496T>G c.2542T>G (p.Ser848Ala) c.2929T>G (p.Ser977Ala) c.2293T>G (p.Ser765Ala) c.-647T>G (n.-647T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211748T= | CA1603478823 | NSD1 | c.2476T= (p.Ser826=) n.612+7456T= n.2932T= c.3040T= (p.Ser1014=) n.2746T= c.3349T= (p.Ser1117=) n.3496T= c.2542T= (p.Ser848=) c.2929T= (p.Ser977=) c.2293T= (p.Ser765=) c.-647T= (n.-647T=) | |
5 | g.177211749C>A | CA362323927 | NSD1 | c.2477C>A (p.Ser826Tyr) n.612+7457C>A n.2933C>A c.3041C>A (p.Ser1014Tyr) n.2747C>A c.3350C>A (p.Ser1117Tyr) n.3497C>A c.2543C>A (p.Ser848Tyr) c.2930C>A (p.Ser977Tyr) c.2294C>A (p.Ser765Tyr) c.-646C>A (n.-646C>A) | dbSNP |
5 | g.177211749C= | CA1603478827 | NSD1 | c.2477C= (p.Ser826=) n.612+7457C= n.2933C= c.3041C= (p.Ser1014=) n.2747C= c.3350C= (p.Ser1117=) n.3497C= c.2543C= (p.Ser848=) c.2930C= (p.Ser977=) c.2294C= (p.Ser765=) c.-646C= (n.-646C=) | |
5 | g.177211749C>G | CA362323933 | NSD1 | c.2477C>G (p.Ser826Cys) n.612+7457C>G n.2933C>G c.3041C>G (p.Ser1014Cys) n.2747C>G c.3350C>G (p.Ser1117Cys) n.3497C>G c.2543C>G (p.Ser848Cys) c.2930C>G (p.Ser977Cys) c.2294C>G (p.Ser765Cys) c.-646C>G (n.-646C>G) | dbSNP gnomAD v2 |
5 | g.177211749C>T | CA362323929 | NSD1 | c.2477C>T (p.Ser826Phe) n.612+7457C>T n.2933C>T c.3041C>T (p.Ser1014Phe) n.2747C>T c.3350C>T (p.Ser1117Phe) n.3497C>T c.2543C>T (p.Ser848Phe) c.2930C>T (p.Ser977Phe) c.2294C>T (p.Ser765Phe) c.-646C>T (n.-646C>T) | |
5 | g.177211750T>A | CA447961082 | NSD1 | c.2478T>A (p.Ser826=) n.612+7458T>A n.2934T>A c.3042T>A (p.Ser1014=) n.2748T>A c.3351T>A (p.Ser1117=) n.3498T>A c.2544T>A (p.Ser848=) c.2931T>A (p.Ser977=) c.2295T>A (p.Ser765=) c.-645T>A (n.-645T>A) | |
5 | g.177211750T>C | CA447961083 | NSD1 | c.2478T>C (p.Ser826=) n.612+7458T>C n.2934T>C c.3042T>C (p.Ser1014=) n.2748T>C c.3351T>C (p.Ser1117=) n.3498T>C c.2544T>C (p.Ser848=) c.2931T>C (p.Ser977=) c.2295T>C (p.Ser765=) c.-645T>C (n.-645T>C) | |
5 | g.177211750T>G | CA447961084 | NSD1 | c.2478T>G (p.Ser826=) n.612+7458T>G n.2934T>G c.3042T>G (p.Ser1014=) n.2748T>G c.3351T>G (p.Ser1117=) n.3498T>G c.2544T>G (p.Ser848=) c.2931T>G (p.Ser977=) c.2295T>G (p.Ser765=) c.-645T>G (n.-645T>G) | |
5 | g.177211751G>A | CA362323939 | NSD1 | c.2479G>A (p.Asp827Asn) n.612+7459G>A n.2935G>A c.3043G>A (p.Asp1015Asn) n.2749G>A c.3352G>A (p.Asp1118Asn) n.3499G>A c.2545G>A (p.Asp849Asn) c.2932G>A (p.Asp978Asn) c.2296G>A (p.Asp766Asn) c.-644G>A (n.-644G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211751G>C | CA362323945 | NSD1 | c.2479G>C (p.Asp827His) n.612+7459G>C n.2935G>C c.3043G>C (p.Asp1015His) n.2749G>C c.3352G>C (p.Asp1118His) n.3499G>C c.2545G>C (p.Asp849His) c.2932G>C (p.Asp978His) c.2296G>C (p.Asp766His) c.-644G>C (n.-644G>C) | |
5 | g.177211751G= | CA1603478831 | NSD1 | c.2479G= (p.Asp827=) n.612+7459G= n.2935G= c.3043G= (p.Asp1015=) n.2749G= c.3352G= (p.Asp1118=) n.3499G= c.2545G= (p.Asp849=) c.2932G= (p.Asp978=) c.2296G= (p.Asp766=) c.-644G= (n.-644G=) | |
5 | g.177211751G>T | CA362323941 | NSD1 | c.2479G>T (p.Asp827Tyr) n.612+7459G>T n.2935G>T c.3043G>T (p.Asp1015Tyr) n.2749G>T c.3352G>T (p.Asp1118Tyr) n.3499G>T c.2545G>T (p.Asp849Tyr) c.2932G>T (p.Asp978Tyr) c.2296G>T (p.Asp766Tyr) c.-644G>T (n.-644G>T) | gnomAD v4 |
5 | g.177211752A>C | CA362323949 | NSD1 | c.2480A>C (p.Asp827Ala) n.612+7460A>C n.2936A>C c.3044A>C (p.Asp1015Ala) n.2750A>C c.3353A>C (p.Asp1118Ala) n.3500A>C c.2546A>C (p.Asp849Ala) c.2933A>C (p.Asp978Ala) c.2297A>C (p.Asp766Ala) c.-643A>C (n.-643A>C) | |
5 | g.177211752A>G | CA362323952 | NSD1 | c.2480A>G (p.Asp827Gly) n.612+7460A>G n.2936A>G c.3044A>G (p.Asp1015Gly) n.2750A>G c.3353A>G (p.Asp1118Gly) n.3500A>G c.2546A>G (p.Asp849Gly) c.2933A>G (p.Asp978Gly) c.2297A>G (p.Asp766Gly) c.-643A>G (n.-643A>G) | |
5 | g.177211752A>T | CA362323956 | NSD1 | c.2480A>T (p.Asp827Val) n.612+7460A>T n.2936A>T c.3044A>T (p.Asp1015Val) n.2750A>T c.3353A>T (p.Asp1118Val) n.3500A>T c.2546A>T (p.Asp849Val) c.2933A>T (p.Asp978Val) c.2297A>T (p.Asp766Val) c.-643A>T (n.-643A>T) | |
5 | g.177211753T>A | CA362323959 | NSD1 | c.2481T>A (p.Asp827Glu) n.612+7461T>A n.2937T>A c.3045T>A (p.Asp1015Glu) n.2751T>A c.3354T>A (p.Asp1118Glu) n.3501T>A c.2547T>A (p.Asp849Glu) c.2934T>A (p.Asp978Glu) c.2298T>A (p.Asp766Glu) c.-642T>A (n.-642T>A) | |
5 | g.177211753T>C | CA447961085 | NSD1 | c.2481T>C (p.Asp827=) n.612+7461T>C n.2937T>C c.3045T>C (p.Asp1015=) n.2751T>C c.3354T>C (p.Asp1118=) n.3501T>C c.2547T>C (p.Asp849=) c.2934T>C (p.Asp978=) c.2298T>C (p.Asp766=) c.-642T>C (n.-642T>C) | |
5 | g.177211753T>G | CA362323962 | NSD1 | c.2481T>G (p.Asp827Glu) n.612+7461T>G n.2937T>G c.3045T>G (p.Asp1015Glu) n.2751T>G c.3354T>G (p.Asp1118Glu) n.3501T>G c.2547T>G (p.Asp849Glu) c.2934T>G (p.Asp978Glu) c.2298T>G (p.Asp766Glu) c.-642T>G (n.-642T>G) | |
5 | g.177211754C>A | CA3577421 | NSD1 | c.2482C>A (p.Pro828Thr) n.612+7462C>A n.2938C>A c.3046C>A (p.Pro1016Thr) n.2752C>A c.3355C>A (p.Pro1119Thr) n.3502C>A c.2548C>A (p.Pro850Thr) c.2935C>A (p.Pro979Thr) c.2299C>A (p.Pro767Thr) c.-641C>A (n.-641C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211754C= | CA1603478835 | NSD1 | c.2482C= (p.Pro828=) n.612+7462C= n.2938C= c.3046C= (p.Pro1016=) n.2752C= c.3355C= (p.Pro1119=) n.3502C= c.2548C= (p.Pro850=) c.2935C= (p.Pro979=) c.2299C= (p.Pro767=) c.-641C= (n.-641C=) | |
5 | g.177211754C>G | CA234437 | NSD1 | c.2482C>G (p.Pro828Ala) n.612+7462C>G n.2938C>G c.3046C>G (p.Pro1016Ala) n.2752C>G c.3355C>G (p.Pro1119Ala) n.3502C>G c.2548C>G (p.Pro850Ala) c.2935C>G (p.Pro979Ala) c.2299C>G (p.Pro767Ala) c.-641C>G (n.-641C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211754C>T | CA362323973 | NSD1 | c.2482C>T (p.Pro828Ser) n.612+7462C>T n.2938C>T c.3046C>T (p.Pro1016Ser) n.2752C>T c.3355C>T (p.Pro1119Ser) n.3502C>T c.2548C>T (p.Pro850Ser) c.2935C>T (p.Pro979Ser) c.2299C>T (p.Pro767Ser) c.-641C>T (n.-641C>T) | |
5 | g.177211755del | CA2695202836 | NSD1 | c.2483del (p.Pro828LeufsTer22) n.612+7463del n.2939del c.3047del (p.Pro1016LeufsTer22) n.2753del c.3356del (p.Pro1119LeufsTer22) n.3503del c.2549del (p.Pro850LeufsTer22) c.2936del (p.Pro979LeufsTer22) c.2300del (p.Pro767LeufsTer22) c.-640del (n.-640del) | |
5 | g.177211755C>A | CA362323977 | NSD1 | c.2483C>A (p.Pro828His) n.612+7463C>A n.2939C>A c.3047C>A (p.Pro1016His) n.2753C>A c.3356C>A (p.Pro1119His) n.3503C>A c.2549C>A (p.Pro850His) c.2936C>A (p.Pro979His) c.2300C>A (p.Pro767His) c.-640C>A (n.-640C>A) | |
5 | g.177211755C>G | CA362323978 | NSD1 | c.2483C>G (p.Pro828Arg) n.612+7463C>G n.2939C>G c.3047C>G (p.Pro1016Arg) n.2753C>G c.3356C>G (p.Pro1119Arg) n.3503C>G c.2549C>G (p.Pro850Arg) c.2936C>G (p.Pro979Arg) c.2300C>G (p.Pro767Arg) c.-640C>G (n.-640C>G) | |
5 | g.177211755C>T | CA362323981 | NSD1 | c.2483C>T (p.Pro828Leu) n.612+7463C>T n.2939C>T c.3047C>T (p.Pro1016Leu) n.2753C>T c.3356C>T (p.Pro1119Leu) n.3503C>T c.2549C>T (p.Pro850Leu) c.2936C>T (p.Pro979Leu) c.2300C>T (p.Pro767Leu) c.-640C>T (n.-640C>T) | dbSNP |
5 | g.177211756T>A | CA447961086 | NSD1 | c.2484T>A (p.Pro828=) n.612+7464T>A n.2940T>A c.3048T>A (p.Pro1016=) n.2754T>A c.3357T>A (p.Pro1119=) n.3504T>A c.2550T>A (p.Pro850=) c.2937T>A (p.Pro979=) c.2301T>A (p.Pro767=) c.-639T>A (n.-639T>A) | |
5 | g.177211756T>C | CA447961087 | NSD1 | c.2484T>C (p.Pro828=) n.612+7464T>C n.2940T>C c.3048T>C (p.Pro1016=) n.2754T>C c.3357T>C (p.Pro1119=) n.3504T>C c.2550T>C (p.Pro850=) c.2937T>C (p.Pro979=) c.2301T>C (p.Pro767=) c.-639T>C (n.-639T>C) | |
5 | g.177211756T>G | CA447961088 | NSD1 | c.2484T>G (p.Pro828=) n.612+7464T>G n.2940T>G c.3048T>G (p.Pro1016=) n.2754T>G c.3357T>G (p.Pro1119=) n.3504T>G c.2550T>G (p.Pro850=) c.2937T>G (p.Pro979=) c.2301T>G (p.Pro767=) c.-639T>G (n.-639T>G) | |
5 | g.177211757G>A | CA362323985 | NSD1 | c.2485G>A (p.Gly829Ser) n.612+7465G>A n.2941G>A c.3049G>A (p.Gly1017Ser) n.2755G>A c.3358G>A (p.Gly1120Ser) n.3505G>A c.2551G>A (p.Gly851Ser) c.2938G>A (p.Gly980Ser) c.2302G>A (p.Gly768Ser) c.-638G>A (n.-638G>A) | |
5 | g.177211757G>C | CA362323988 | NSD1 | c.2485G>C (p.Gly829Arg) n.612+7465G>C n.2941G>C c.3049G>C (p.Gly1017Arg) n.2755G>C c.3358G>C (p.Gly1120Arg) n.3505G>C c.2551G>C (p.Gly851Arg) c.2938G>C (p.Gly980Arg) c.2302G>C (p.Gly768Arg) c.-638G>C (n.-638G>C) | ClinVar dbSNP |
5 | g.177211757G= | CA1603478841 | NSD1 | c.2485G= (p.Gly829=) n.612+7465G= n.2941G= c.3049G= (p.Gly1017=) n.2755G= c.3358G= (p.Gly1120=) n.3505G= c.2551G= (p.Gly851=) c.2938G= (p.Gly980=) c.2302G= (p.Gly768=) c.-638G= (n.-638G=) | |
5 | g.177211757G>T | CA362323986 | NSD1 | c.2485G>T (p.Gly829Cys) n.612+7465G>T n.2941G>T c.3049G>T (p.Gly1017Cys) n.2755G>T c.3358G>T (p.Gly1120Cys) n.3505G>T c.2551G>T (p.Gly851Cys) c.2938G>T (p.Gly980Cys) c.2302G>T (p.Gly768Cys) c.-638G>T (n.-638G>T) | |
5 | g.177211758G>A | CA362323991 | NSD1 | c.2486G>A (p.Gly829Asp) n.612+7466G>A n.2942G>A c.3050G>A (p.Gly1017Asp) n.2756G>A c.3359G>A (p.Gly1120Asp) n.3506G>A c.2552G>A (p.Gly851Asp) c.2939G>A (p.Gly980Asp) c.2303G>A (p.Gly768Asp) c.-637G>A (n.-637G>A) | |
5 | g.177211758G>C | CA362323994 | NSD1 | c.2486G>C (p.Gly829Ala) n.612+7466G>C n.2942G>C c.3050G>C (p.Gly1017Ala) n.2756G>C c.3359G>C (p.Gly1120Ala) n.3506G>C c.2552G>C (p.Gly851Ala) c.2939G>C (p.Gly980Ala) c.2303G>C (p.Gly768Ala) c.-637G>C (n.-637G>C) | dbSNP |
5 | g.177211758G>T | CA362323997 | NSD1 | c.2486G>T (p.Gly829Val) n.612+7466G>T n.2942G>T c.3050G>T (p.Gly1017Val) n.2756G>T c.3359G>T (p.Gly1120Val) n.3506G>T c.2552G>T (p.Gly851Val) c.2939G>T (p.Gly980Val) c.2303G>T (p.Gly768Val) c.-637G>T (n.-637G>T) | COSMIC COSMIC |
5 | g.177211759T>A | CA447961089 | NSD1 | c.2487T>A (p.Gly829=) n.612+7467T>A n.2943T>A c.3051T>A (p.Gly1017=) n.2757T>A c.3360T>A (p.Gly1120=) n.3507T>A c.2553T>A (p.Gly851=) c.2940T>A (p.Gly980=) c.2304T>A (p.Gly768=) c.-636T>A (n.-636T>A) | dbSNP |
5 | g.177211759T>C | CA447961090 | NSD1 | c.2487T>C (p.Gly829=) n.612+7467T>C n.2943T>C c.3051T>C (p.Gly1017=) n.2757T>C c.3360T>C (p.Gly1120=) n.3507T>C c.2553T>C (p.Gly851=) c.2940T>C (p.Gly980=) c.2304T>C (p.Gly768=) c.-636T>C (n.-636T>C) | |
5 | g.177211759T>G | CA447961091 | NSD1 | c.2487T>G (p.Gly829=) n.612+7467T>G n.2943T>G c.3051T>G (p.Gly1017=) n.2757T>G c.3360T>G (p.Gly1120=) n.3507T>G c.2553T>G (p.Gly851=) c.2940T>G (p.Gly980=) c.2304T>G (p.Gly768=) c.-636T>G (n.-636T>G) | |
5 | g.177211760A>C | CA362324000 | NSD1 | c.2488A>C (p.Lys830Gln) n.612+7468A>C n.2944A>C c.3052A>C (p.Lys1018Gln) n.2758A>C c.3361A>C (p.Lys1121Gln) n.3508A>C c.2554A>C (p.Lys852Gln) c.2941A>C (p.Lys981Gln) c.2305A>C (p.Lys769Gln) c.-635A>C (n.-635A>C) | |
5 | g.177211760A>G | CA362324004 | NSD1 | c.2488A>G (p.Lys830Glu) n.612+7468A>G n.2944A>G c.3052A>G (p.Lys1018Glu) n.2758A>G c.3361A>G (p.Lys1121Glu) n.3508A>G c.2554A>G (p.Lys852Glu) c.2941A>G (p.Lys981Glu) c.2305A>G (p.Lys769Glu) c.-635A>G (n.-635A>G) | COSMIC COSMIC |
5 | g.177211760A>T | CA362324007 | NSD1 | c.2488A>T (p.Lys830Ter) n.612+7468A>T n.2944A>T c.3052A>T (p.Lys1018Ter) n.2758A>T c.3361A>T (p.Lys1121Ter) n.3508A>T c.2554A>T (p.Lys852Ter) c.2941A>T (p.Lys981Ter) c.2305A>T (p.Lys769Ter) c.-635A>T (n.-635A>T) | |
5 | g.177211763dup | CA2499217773 | NSD1 | c.2491dup (p.Ile831AsnfsTer3) n.612+7471dup n.2947dup c.3055dup (p.Ile1019AsnfsTer3) n.2761dup c.3364dup (p.Ile1122AsnfsTer3) n.3511dup c.2557dup (p.Ile853AsnfsTer3) c.2944dup (p.Ile982AsnfsTer3) c.2308dup (p.Ile770AsnfsTer3) c.-632dup (n.-632dup) | ClinVar dbSNP |
5 | g.177211761A>C | CA362324013 | NSD1 | c.2489A>C (p.Lys830Thr) n.612+7469A>C n.2945A>C c.3053A>C (p.Lys1018Thr) n.2759A>C c.3362A>C (p.Lys1121Thr) n.3509A>C c.2555A>C (p.Lys852Thr) c.2942A>C (p.Lys981Thr) c.2306A>C (p.Lys769Thr) c.-634A>C (n.-634A>C) | |
5 | g.177211761A>G | CA362324015 | NSD1 | c.2489A>G (p.Lys830Arg) n.612+7469A>G n.2945A>G c.3053A>G (p.Lys1018Arg) n.2759A>G c.3362A>G (p.Lys1121Arg) n.3509A>G c.2555A>G (p.Lys852Arg) c.2942A>G (p.Lys981Arg) c.2306A>G (p.Lys769Arg) c.-634A>G (n.-634A>G) | gnomAD v4 |
5 | g.177211761A>T | CA362324018 | NSD1 | c.2489A>T (p.Lys830Ile) n.612+7469A>T n.2945A>T c.3053A>T (p.Lys1018Ile) n.2759A>T c.3362A>T (p.Lys1121Ile) n.3509A>T c.2555A>T (p.Lys852Ile) c.2942A>T (p.Lys981Ile) c.2306A>T (p.Lys769Ile) c.-634A>T (n.-634A>T) | |
5 | g.177211762A= | CA1603478843 | NSD1 | c.2490A= (p.Lys830=) n.612+7470A= n.2946A= c.3054A= (p.Lys1018=) n.2760A= c.3363A= (p.Lys1121=) n.3510A= c.2556A= (p.Lys852=) c.2943A= (p.Lys981=) c.2307A= (p.Lys769=) c.-633A= (n.-633A=) | |
5 | g.177211762A>C | CA362324026 | NSD1 | c.2490A>C (p.Lys830Asn) n.612+7470A>C n.2946A>C c.3054A>C (p.Lys1018Asn) n.2760A>C c.3363A>C (p.Lys1121Asn) n.3510A>C c.2556A>C (p.Lys852Asn) c.2943A>C (p.Lys981Asn) c.2307A>C (p.Lys769Asn) c.-633A>C (n.-633A>C) | COSMIC COSMIC |
5 | g.177211762A>G | CA3577422 | NSD1 | c.2490A>G (p.Lys830=) n.612+7470A>G n.2946A>G c.3054A>G (p.Lys1018=) n.2760A>G c.3363A>G (p.Lys1121=) n.3510A>G c.2556A>G (p.Lys852=) c.2943A>G (p.Lys981=) c.2307A>G (p.Lys769=) c.-633A>G (n.-633A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211762A>T | CA362324023 | NSD1 | c.2490A>T (p.Lys830Asn) n.612+7470A>T n.2946A>T c.3054A>T (p.Lys1018Asn) n.2760A>T c.3363A>T (p.Lys1121Asn) n.3510A>T c.2556A>T (p.Lys852Asn) c.2943A>T (p.Lys981Asn) c.2307A>T (p.Lys769Asn) c.-633A>T (n.-633A>T) | |
5 | g.177211763A= | CA1603478849 | NSD1 | c.2491A= (p.Ile831=) n.612+7471A= n.2947A= c.3055A= (p.Ile1019=) n.2761A= c.3364A= (p.Ile1122=) n.3511A= c.2557A= (p.Ile853=) c.2944A= (p.Ile982=) c.2308A= (p.Ile770=) c.-632A= (n.-632A=) | |
5 | g.177211763A>C | CA362324034 | NSD1 | c.2491A>C (p.Ile831Leu) n.612+7471A>C n.2947A>C c.3055A>C (p.Ile1019Leu) n.2761A>C c.3364A>C (p.Ile1122Leu) n.3511A>C c.2557A>C (p.Ile853Leu) c.2944A>C (p.Ile982Leu) c.2308A>C (p.Ile770Leu) c.-632A>C (n.-632A>C) | |
5 | g.177211763A>G | CA362324040 | NSD1 | c.2491A>G (p.Ile831Val) n.612+7471A>G n.2947A>G c.3055A>G (p.Ile1019Val) n.2761A>G c.3364A>G (p.Ile1122Val) n.3511A>G c.2557A>G (p.Ile853Val) c.2944A>G (p.Ile982Val) c.2308A>G (p.Ile770Val) c.-632A>G (n.-632A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211763A>T | CA362324044 | NSD1 | c.2491A>T (p.Ile831Phe) n.612+7471A>T n.2947A>T c.3055A>T (p.Ile1019Phe) n.2761A>T c.3364A>T (p.Ile1122Phe) n.3511A>T c.2557A>T (p.Ile853Phe) c.2944A>T (p.Ile982Phe) c.2308A>T (p.Ile770Phe) c.-632A>T (n.-632A>T) | |
5 | g.177211764T>A | CA362324050 | NSD1 | c.2492T>A (p.Ile831Asn) n.612+7472T>A n.2948T>A c.3056T>A (p.Ile1019Asn) n.2762T>A c.3365T>A (p.Ile1122Asn) n.3512T>A c.2558T>A (p.Ile853Asn) c.2945T>A (p.Ile982Asn) c.2309T>A (p.Ile770Asn) c.-631T>A (n.-631T>A) | |
5 | g.177211764T>C | CA362324052 | NSD1 | c.2492T>C (p.Ile831Thr) n.612+7472T>C n.2948T>C c.3056T>C (p.Ile1019Thr) n.2762T>C c.3365T>C (p.Ile1122Thr) n.3512T>C c.2558T>C (p.Ile853Thr) c.2945T>C (p.Ile982Thr) c.2309T>C (p.Ile770Thr) c.-631T>C (n.-631T>C) | |
5 | g.177211764T>G | CA362324056 | NSD1 | c.2492T>G (p.Ile831Ser) n.612+7472T>G n.2948T>G c.3056T>G (p.Ile1019Ser) n.2762T>G c.3365T>G (p.Ile1122Ser) n.3512T>G c.2558T>G (p.Ile853Ser) c.2945T>G (p.Ile982Ser) c.2309T>G (p.Ile770Ser) c.-631T>G (n.-631T>G) | |
5 | g.177211765T>A | CA447961093 | NSD1 | c.2493T>A (p.Ile831=) n.612+7473T>A n.2949T>A c.3057T>A (p.Ile1019=) n.2763T>A c.3366T>A (p.Ile1122=) n.3513T>A c.2559T>A (p.Ile853=) c.2946T>A (p.Ile982=) c.2310T>A (p.Ile770=) c.-630T>A (n.-630T>A) | gnomAD v4 |
5 | g.177211765T>C | CA447961092 | NSD1 | c.2493T>C (p.Ile831=) n.612+7473T>C n.2949T>C c.3057T>C (p.Ile1019=) n.2763T>C c.3366T>C (p.Ile1122=) n.3513T>C c.2559T>C (p.Ile853=) c.2946T>C (p.Ile982=) c.2310T>C (p.Ile770=) c.-630T>C (n.-630T>C) | |
5 | g.177211765T>G | CA362324061 | NSD1 | c.2493T>G (p.Ile831Met) n.612+7473T>G n.2949T>G c.3057T>G (p.Ile1019Met) n.2763T>G c.3366T>G (p.Ile1122Met) n.3513T>G c.2559T>G (p.Ile853Met) c.2946T>G (p.Ile982Met) c.2310T>G (p.Ile770Met) c.-630T>G (n.-630T>G) | COSMIC COSMIC |
5 | g.177211766T>A | CA362324065 | NSD1 | c.2494T>A (p.Ser832Thr) n.612+7474T>A n.2950T>A c.3058T>A (p.Ser1020Thr) n.2764T>A c.3367T>A (p.Ser1123Thr) n.3514T>A c.2560T>A (p.Ser854Thr) c.2947T>A (p.Ser983Thr) c.2311T>A (p.Ser771Thr) c.-629T>A (n.-629T>A) | |
5 | g.177211766T>C | CA362324068 | NSD1 | c.2494T>C (p.Ser832Pro) n.612+7474T>C n.2950T>C c.3058T>C (p.Ser1020Pro) n.2764T>C c.3367T>C (p.Ser1123Pro) n.3514T>C c.2560T>C (p.Ser854Pro) c.2947T>C (p.Ser983Pro) c.2311T>C (p.Ser771Pro) c.-629T>C (n.-629T>C) | |
5 | g.177211766T>G | CA362324071 | NSD1 | c.2494T>G (p.Ser832Ala) n.612+7474T>G n.2950T>G c.3058T>G (p.Ser1020Ala) n.2764T>G c.3367T>G (p.Ser1123Ala) n.3514T>G c.2560T>G (p.Ser854Ala) c.2947T>G (p.Ser983Ala) c.2311T>G (p.Ser771Ala) c.-629T>G (n.-629T>G) | |
5 | g.177211767del | CA2573052478 | NSD1 | c.2495del (p.Ser832LeufsTer18) n.612+7475del n.2951del c.3059del (p.Ser1020LeufsTer18) n.2765del c.3368del (p.Ser1123LeufsTer18) n.3515del c.2561del (p.Ser854LeufsTer18) c.2948del (p.Ser983LeufsTer18) c.2312del (p.Ser771LeufsTer18) c.-628del (n.-628del) | ClinVar dbSNP |
5 | g.177211767C>A | CA362324076 | NSD1 | c.2495C>A (p.Ser832Tyr) n.612+7475C>A n.2951C>A c.3059C>A (p.Ser1020Tyr) n.2765C>A c.3368C>A (p.Ser1123Tyr) n.3515C>A c.2561C>A (p.Ser854Tyr) c.2948C>A (p.Ser983Tyr) c.2312C>A (p.Ser771Tyr) c.-628C>A (n.-628C>A) | |
5 | g.177211767C>G | CA362324078 | NSD1 | c.2495C>G (p.Ser832Cys) n.612+7475C>G n.2951C>G c.3059C>G (p.Ser1020Cys) n.2765C>G c.3368C>G (p.Ser1123Cys) n.3515C>G c.2561C>G (p.Ser854Cys) c.2948C>G (p.Ser983Cys) c.2312C>G (p.Ser771Cys) c.-628C>G (n.-628C>G) | dbSNP |
5 | g.177211767C>T | CA362324082 | NSD1 | c.2495C>T (p.Ser832Phe) n.612+7475C>T n.2951C>T c.3059C>T (p.Ser1020Phe) n.2765C>T c.3368C>T (p.Ser1123Phe) n.3515C>T c.2561C>T (p.Ser854Phe) c.2948C>T (p.Ser983Phe) c.2312C>T (p.Ser771Phe) c.-628C>T (n.-628C>T) | |
5 | g.177211768T>A | CA447961094 | NSD1 | c.2496T>A (p.Ser832=) n.612+7476T>A n.2952T>A c.3060T>A (p.Ser1020=) n.2766T>A c.3369T>A (p.Ser1123=) n.3516T>A c.2562T>A (p.Ser854=) c.2949T>A (p.Ser983=) c.2313T>A (p.Ser771=) c.-627T>A (n.-627T>A) | |
5 | g.177211768T>C | CA447961095 | NSD1 | c.2496T>C (p.Ser832=) n.612+7476T>C n.2952T>C c.3060T>C (p.Ser1020=) n.2766T>C c.3369T>C (p.Ser1123=) n.3516T>C c.2562T>C (p.Ser854=) c.2949T>C (p.Ser983=) c.2313T>C (p.Ser771=) c.-627T>C (n.-627T>C) | |
5 | g.177211768T>G | CA447961096 | NSD1 | c.2496T>G (p.Ser832=) n.612+7476T>G n.2952T>G c.3060T>G (p.Ser1020=) n.2766T>G c.3369T>G (p.Ser1123=) n.3516T>G c.2562T>G (p.Ser854=) c.2949T>G (p.Ser983=) c.2313T>G (p.Ser771=) c.-627T>G (n.-627T>G) | |
5 | g.177211769G>A | CA362324085 | NSD1 | c.2497G>A (p.Glu833Lys) n.612+7477G>A n.2953G>A c.3061G>A (p.Glu1021Lys) n.2767G>A c.3370G>A (p.Glu1124Lys) n.3517G>A c.2563G>A (p.Glu855Lys) c.2950G>A (p.Glu984Lys) c.2314G>A (p.Glu772Lys) c.-626G>A (n.-626G>A) | |
5 | g.177211769G>C | CA362324091 | NSD1 | c.2497G>C (p.Glu833Gln) n.612+7477G>C n.2953G>C c.3061G>C (p.Glu1021Gln) n.2767G>C c.3370G>C (p.Glu1124Gln) n.3517G>C c.2563G>C (p.Glu855Gln) c.2950G>C (p.Glu984Gln) c.2314G>C (p.Glu772Gln) c.-626G>C (n.-626G>C) | |
5 | g.177211769G>T | CA362324088 | NSD1 | c.2497G>T (p.Glu833Ter) n.612+7477G>T n.2953G>T c.3061G>T (p.Glu1021Ter) n.2767G>T c.3370G>T (p.Glu1124Ter) n.3517G>T c.2563G>T (p.Glu855Ter) c.2950G>T (p.Glu984Ter) c.2314G>T (p.Glu772Ter) c.-626G>T (n.-626G>T) | |
5 | g.177211770A= | CA1603478852 | NSD1 | c.2498A= (p.Glu833=) n.612+7478A= n.2954A= c.3062A= (p.Glu1021=) n.2768A= c.3371A= (p.Glu1124=) n.3518A= c.2564A= (p.Glu855=) c.2951A= (p.Glu984=) c.2315A= (p.Glu772=) c.-625A= (n.-625A=) | |
5 | g.177211770A>C | CA3577423 | NSD1 | c.2498A>C (p.Glu833Ala) n.612+7478A>C n.2954A>C c.3062A>C (p.Glu1021Ala) n.2768A>C c.3371A>C (p.Glu1124Ala) n.3518A>C c.2564A>C (p.Glu855Ala) c.2951A>C (p.Glu984Ala) c.2315A>C (p.Glu772Ala) c.-625A>C (n.-625A>C) | dbSNP ExAC gnomAD v2 |
5 | g.177211770A>G | CA362324098 | NSD1 | c.2498A>G (p.Glu833Gly) n.612+7478A>G n.2954A>G c.3062A>G (p.Glu1021Gly) n.2768A>G c.3371A>G (p.Glu1124Gly) n.3518A>G c.2564A>G (p.Glu855Gly) c.2951A>G (p.Glu984Gly) c.2315A>G (p.Glu772Gly) c.-625A>G (n.-625A>G) | |
5 | g.177211770A>T | CA362324101 | NSD1 | c.2498A>T (p.Glu833Val) n.612+7478A>T n.2954A>T c.3062A>T (p.Glu1021Val) n.2768A>T c.3371A>T (p.Glu1124Val) n.3518A>T c.2564A>T (p.Glu855Val) c.2951A>T (p.Glu984Val) c.2315A>T (p.Glu772Val) c.-625A>T (n.-625A>T) | |
5 | g.177211774del | CA2711102353 | NSD1 | c.2502del (p.Gly835AspfsTer15) n.612+7482del n.2958del c.3066del (p.Gly1023AspfsTer15) n.2772del c.3375del (p.Gly1126AspfsTer15) n.3522del c.2568del (p.Gly857AspfsTer15) c.2955del (p.Gly986AspfsTer15) c.2319del (p.Gly774AspfsTer15) c.-621del (n.-621del) | dbSNP |
5 | g.177211771A>C | CA362324105 | NSD1 | c.2499A>C (p.Glu833Asp) n.612+7479A>C n.2955A>C c.3063A>C (p.Glu1021Asp) n.2769A>C c.3372A>C (p.Glu1124Asp) n.3519A>C c.2565A>C (p.Glu855Asp) c.2952A>C (p.Glu984Asp) c.2316A>C (p.Glu772Asp) c.-624A>C (n.-624A>C) | |
5 | g.177211771A>G | CA447961097 | NSD1 | c.2499A>G (p.Glu833=) n.612+7479A>G n.2955A>G c.3063A>G (p.Glu1021=) n.2769A>G c.3372A>G (p.Glu1124=) n.3519A>G c.2565A>G (p.Glu855=) c.2952A>G (p.Glu984=) c.2316A>G (p.Glu772=) c.-624A>G (n.-624A>G) | |
5 | g.177211771A>T | CA362324107 | NSD1 | c.2499A>T (p.Glu833Asp) n.612+7479A>T n.2955A>T c.3063A>T (p.Glu1021Asp) n.2769A>T c.3372A>T (p.Glu1124Asp) n.3519A>T c.2565A>T (p.Glu855Asp) c.2952A>T (p.Glu984Asp) c.2316A>T (p.Glu772Asp) c.-624A>T (n.-624A>T) | |
5 | g.177211777_177211800del | CA2676687586 | NSD1 | c.2505_2528del (p.Leu836_Gly843del) n.612+7485_612+7508del n.2961_2984del c.3069_3092del (p.Leu1024_Gly1031del) n.2775_2798del c.3378_3401del (p.Leu1127_Gly1134del) n.3525_3548del c.2571_2594del (p.Leu858_Gly865del) c.2958_2981del (p.Leu987_Gly994del) c.2322_2345del (p.Leu775_Gly782del) c.-618_-595del (n.-618_-595del) | gnomAD v4 |
5 | g.177211772A= | CA1603478859 | NSD1 | c.2500A= (p.Lys834=) n.612+7480A= n.2956A= c.3064A= (p.Lys1022=) n.2770A= c.3373A= (p.Lys1125=) n.3520A= c.2566A= (p.Lys856=) c.2953A= (p.Lys985=) c.2317A= (p.Lys773=) c.-623A= (n.-623A=) | |
5 | g.177211772A>C | CA362324111 | NSD1 | c.2500A>C (p.Lys834Gln) n.612+7480A>C n.2956A>C c.3064A>C (p.Lys1022Gln) n.2770A>C c.3373A>C (p.Lys1125Gln) n.3520A>C c.2566A>C (p.Lys856Gln) c.2953A>C (p.Lys985Gln) c.2317A>C (p.Lys773Gln) c.-623A>C (n.-623A>C) | |
5 | g.177211772A>G | CA362324114 | NSD1 | c.2500A>G (p.Lys834Glu) n.612+7480A>G n.2956A>G c.3064A>G (p.Lys1022Glu) n.2770A>G c.3373A>G (p.Lys1125Glu) n.3520A>G c.2566A>G (p.Lys856Glu) c.2953A>G (p.Lys985Glu) c.2317A>G (p.Lys773Glu) c.-623A>G (n.-623A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211772A>T | CA362324116 | NSD1 | c.2500A>T (p.Lys834Ter) n.612+7480A>T n.2956A>T c.3064A>T (p.Lys1022Ter) n.2770A>T c.3373A>T (p.Lys1125Ter) n.3520A>T c.2566A>T (p.Lys856Ter) c.2953A>T (p.Lys985Ter) c.2317A>T (p.Lys773Ter) c.-623A>T (n.-623A>T) | |
5 | g.177211773A= | CA1603478862 | NSD1 | c.2501A= (p.Lys834=) n.612+7481A= n.2957A= c.3065A= (p.Lys1022=) n.2771A= c.3374A= (p.Lys1125=) n.3521A= c.2567A= (p.Lys856=) c.2954A= (p.Lys985=) c.2318A= (p.Lys773=) c.-622A= (n.-622A=) | |
5 | g.177211773A>C | CA362324120 | NSD1 | c.2501A>C (p.Lys834Thr) n.612+7481A>C n.2957A>C c.3065A>C (p.Lys1022Thr) n.2771A>C c.3374A>C (p.Lys1125Thr) n.3521A>C c.2567A>C (p.Lys856Thr) c.2954A>C (p.Lys985Thr) c.2318A>C (p.Lys773Thr) c.-622A>C (n.-622A>C) | |
5 | g.177211773A>G | CA3577424 | NSD1 | c.2501A>G (p.Lys834Arg) n.612+7481A>G n.2957A>G c.3065A>G (p.Lys1022Arg) n.2771A>G c.3374A>G (p.Lys1125Arg) n.3521A>G c.2567A>G (p.Lys856Arg) c.2954A>G (p.Lys985Arg) c.2318A>G (p.Lys773Arg) c.-622A>G (n.-622A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211773A>T | CA362324125 | NSD1 | c.2501A>T (p.Lys834Ile) n.612+7481A>T n.2957A>T c.3065A>T (p.Lys1022Ile) n.2771A>T c.3374A>T (p.Lys1125Ile) n.3521A>T c.2567A>T (p.Lys856Ile) c.2954A>T (p.Lys985Ile) c.2318A>T (p.Lys773Ile) c.-622A>T (n.-622A>T) | |
5 | g.177211774A>C | CA362324132 | NSD1 | c.2502A>C (p.Lys834Asn) n.612+7482A>C n.2958A>C c.3066A>C (p.Lys1022Asn) n.2772A>C c.3375A>C (p.Lys1125Asn) n.3522A>C c.2568A>C (p.Lys856Asn) c.2955A>C (p.Lys985Asn) c.2319A>C (p.Lys773Asn) c.-621A>C (n.-621A>C) | |
5 | g.177211774A>G | CA447961098 | NSD1 | c.2502A>G (p.Lys834=) n.612+7482A>G n.2958A>G c.3066A>G (p.Lys1022=) n.2772A>G c.3375A>G (p.Lys1125=) n.3522A>G c.2568A>G (p.Lys856=) c.2955A>G (p.Lys985=) c.2319A>G (p.Lys773=) c.-621A>G (n.-621A>G) | dbSNP |
5 | g.177211774A>T | CA362324129 | NSD1 | c.2502A>T (p.Lys834Asn) n.612+7482A>T n.2958A>T c.3066A>T (p.Lys1022Asn) n.2772A>T c.3375A>T (p.Lys1125Asn) n.3522A>T c.2568A>T (p.Lys856Asn) c.2955A>T (p.Lys985Asn) c.2319A>T (p.Lys773Asn) c.-621A>T (n.-621A>T) | |
5 | g.177211775G>A | CA3577425 | NSD1 | c.2503G>A (p.Gly835Arg) n.612+7483G>A n.2959G>A c.3067G>A (p.Gly1023Arg) n.2773G>A c.3376G>A (p.Gly1126Arg) n.3523G>A c.2569G>A (p.Gly857Arg) c.2956G>A (p.Gly986Arg) c.2320G>A (p.Gly774Arg) c.-620G>A (n.-620G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211775G>C | CA362324138 | NSD1 | c.2503G>C (p.Gly835Arg) n.612+7483G>C n.2959G>C c.3067G>C (p.Gly1023Arg) n.2773G>C c.3376G>C (p.Gly1126Arg) n.3523G>C c.2569G>C (p.Gly857Arg) c.2956G>C (p.Gly986Arg) c.2320G>C (p.Gly774Arg) c.-620G>C (n.-620G>C) | |
5 | g.177211775G= | CA1603478863 | NSD1 | c.2503G= (p.Gly835=) n.612+7483G= n.2959G= c.3067G= (p.Gly1023=) n.2773G= c.3376G= (p.Gly1126=) n.3523G= c.2569G= (p.Gly857=) c.2956G= (p.Gly986=) c.2320G= (p.Gly774=) c.-620G= (n.-620G=) | |
5 | g.177211775G>T | CA362324141 | NSD1 | c.2503G>T (p.Gly835Ter) n.612+7483G>T n.2959G>T c.3067G>T (p.Gly1023Ter) n.2773G>T c.3376G>T (p.Gly1126Ter) n.3523G>T c.2569G>T (p.Gly857Ter) c.2956G>T (p.Gly986Ter) c.2320G>T (p.Gly774Ter) c.-620G>T (n.-620G>T) | |
5 | g.177211776G>A | CA362324147 | NSD1 | c.2504G>A (p.Gly835Glu) n.612+7484G>A n.2960G>A c.3068G>A (p.Gly1023Glu) n.2774G>A c.3377G>A (p.Gly1126Glu) n.3524G>A c.2570G>A (p.Gly857Glu) c.2957G>A (p.Gly986Glu) c.2321G>A (p.Gly774Glu) c.-619G>A (n.-619G>A) | gnomAD v4 |
5 | g.177211776G>C | CA362324150 | NSD1 | c.2504G>C (p.Gly835Ala) n.612+7484G>C n.2960G>C c.3068G>C (p.Gly1023Ala) n.2774G>C c.3377G>C (p.Gly1126Ala) n.3524G>C c.2570G>C (p.Gly857Ala) c.2957G>C (p.Gly986Ala) c.2321G>C (p.Gly774Ala) c.-619G>C (n.-619G>C) | dbSNP |
5 | g.177211776G>T | CA362324154 | NSD1 | c.2504G>T (p.Gly835Val) n.612+7484G>T n.2960G>T c.3068G>T (p.Gly1023Val) n.2774G>T c.3377G>T (p.Gly1126Val) n.3524G>T c.2570G>T (p.Gly857Val) c.2957G>T (p.Gly986Val) c.2321G>T (p.Gly774Val) c.-619G>T (n.-619G>T) | dbSNP |
5 | g.177211777A= | CA1603478870 | NSD1 | c.2505A= (p.Gly835=) n.612+7485A= n.2961A= c.3069A= (p.Gly1023=) n.2775A= c.3378A= (p.Gly1126=) n.3525A= c.2571A= (p.Gly857=) c.2958A= (p.Gly986=) c.2322A= (p.Gly774=) c.-618A= (n.-618A=) | |
5 | g.177211777A>C | CA447961099 | NSD1 | c.2505A>C (p.Gly835=) n.612+7485A>C n.2961A>C c.3069A>C (p.Gly1023=) n.2775A>C c.3378A>C (p.Gly1126=) n.3525A>C c.2571A>C (p.Gly857=) c.2958A>C (p.Gly986=) c.2322A>C (p.Gly774=) c.-618A>C (n.-618A>C) | |
5 | g.177211777A>G | CA132831364 | NSD1 | c.2505A>G (p.Gly835=) n.612+7485A>G n.2961A>G c.3069A>G (p.Gly1023=) n.2775A>G c.3378A>G (p.Gly1126=) n.3525A>G c.2571A>G (p.Gly857=) c.2958A>G (p.Gly986=) c.2322A>G (p.Gly774=) c.-618A>G (n.-618A>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211777A>T | CA447961100 | NSD1 | c.2505A>T (p.Gly835=) n.612+7485A>T n.2961A>T c.3069A>T (p.Gly1023=) n.2775A>T c.3378A>T (p.Gly1126=) n.3525A>T c.2571A>T (p.Gly857=) c.2958A>T (p.Gly986=) c.2322A>T (p.Gly774=) c.-618A>T (n.-618A>T) | dbSNP |
5 | g.177211777_177211779delinsACT | CA1603478867 | NSD1 | c.2505_2507delinsACT (p.Gly835=) n.612+7485_612+7487delinsACT n.2961_2963delinsACT c.3069_3071delinsACT (p.Gly1023=) n.2775_2777delinsACT c.3378_3380delinsACT (p.Gly1126=) n.3525_3527delinsACT c.2571_2573delinsACT (p.Gly857=) c.2958_2960delinsACT (p.Gly986=) c.2322_2324delinsACT (p.Gly774=) c.-618_-616delinsACT (n.-618_-616delinsACT) | |
5 | g.177211778C>A | CA362324166 | NSD1 | c.2506C>A (p.Leu836Ile) n.612+7486C>A n.2962C>A c.3070C>A (p.Leu1024Ile) n.2776C>A c.3379C>A (p.Leu1127Ile) n.3526C>A c.2572C>A (p.Leu858Ile) c.2959C>A (p.Leu987Ile) c.2323C>A (p.Leu775Ile) c.-617C>A (n.-617C>A) | |
5 | g.177211778C>G | CA362324164 | NSD1 | c.2506C>G (p.Leu836Val) n.612+7486C>G n.2962C>G c.3070C>G (p.Leu1024Val) n.2776C>G c.3379C>G (p.Leu1127Val) n.3526C>G c.2572C>G (p.Leu858Val) c.2959C>G (p.Leu987Val) c.2323C>G (p.Leu775Val) c.-617C>G (n.-617C>G) | dbSNP |
5 | g.177211778C>T | CA362324162 | NSD1 | c.2506C>T (p.Leu836Phe) n.612+7486C>T n.2962C>T c.3070C>T (p.Leu1024Phe) n.2776C>T c.3379C>T (p.Leu1127Phe) n.3526C>T c.2572C>T (p.Leu858Phe) c.2959C>T (p.Leu987Phe) c.2323C>T (p.Leu775Phe) c.-617C>T (n.-617C>T) | gnomAD v4 |
5 | g.177211782_177211783del | CA294851 | NSD1 | c.2510_2511del (p.Ser837PhefsTer2) n.612+7490_612+7491del n.2966_2967del c.3074_3075del (p.Ser1025PhefsTer2) n.2780_2781del c.3383_3384del (p.Ser1128PhefsTer2) n.3530_3531del c.2576_2577del (p.Ser859PhefsTer2) c.2963_2964del (p.Ser988PhefsTer2) c.2327_2328del (p.Ser776PhefsTer2) c.-613_-612del (n.-613_-612del) | ClinVar dbSNP |
5 | g.177211779T>A | CA362324172 | NSD1 | c.2507T>A (p.Leu836His) n.612+7487T>A n.2963T>A c.3071T>A (p.Leu1024His) n.2777T>A c.3380T>A (p.Leu1127His) n.3527T>A c.2573T>A (p.Leu858His) c.2960T>A (p.Leu987His) c.2324T>A (p.Leu775His) c.-616T>A (n.-616T>A) | |
5 | g.177211779T>C | CA362324176 | NSD1 | c.2507T>C (p.Leu836Pro) n.612+7487T>C n.2963T>C c.3071T>C (p.Leu1024Pro) n.2777T>C c.3380T>C (p.Leu1127Pro) n.3527T>C c.2573T>C (p.Leu858Pro) c.2960T>C (p.Leu987Pro) c.2324T>C (p.Leu775Pro) c.-616T>C (n.-616T>C) | |
5 | g.177211779T>G | CA362324179 | NSD1 | c.2507T>G (p.Leu836Arg) n.612+7487T>G n.2963T>G c.3071T>G (p.Leu1024Arg) n.2777T>G c.3380T>G (p.Leu1127Arg) n.3527T>G c.2573T>G (p.Leu858Arg) c.2960T>G (p.Leu987Arg) c.2324T>G (p.Leu775Arg) c.-616T>G (n.-616T>G) | COSMIC COSMIC |
5 | g.177211780C>A | CA447961103 | NSD1 | c.2508C>A (p.Leu836=) n.612+7488C>A n.2964C>A c.3072C>A (p.Leu1024=) n.2778C>A c.3381C>A (p.Leu1127=) n.3528C>A c.2574C>A (p.Leu858=) c.2961C>A (p.Leu987=) c.2325C>A (p.Leu775=) c.-615C>A (n.-615C>A) | |
5 | g.177211780C= | CA1603478881 | NSD1 | c.2508C= (p.Leu836=) n.612+7488C= n.2964C= c.3072C= (p.Leu1024=) n.2778C= c.3381C= (p.Leu1127=) n.3528C= c.2574C= (p.Leu858=) c.2961C= (p.Leu987=) c.2325C= (p.Leu775=) c.-615C= (n.-615C=) | |
5 | g.177211780C>G | CA447961102 | NSD1 | c.2508C>G (p.Leu836=) n.612+7488C>G n.2964C>G c.3072C>G (p.Leu1024=) n.2778C>G c.3381C>G (p.Leu1127=) n.3528C>G c.2574C>G (p.Leu858=) c.2961C>G (p.Leu987=) c.2325C>G (p.Leu775=) c.-615C>G (n.-615C>G) | |
5 | g.177211780C>T | CA447961101 | NSD1 | c.2508C>T (p.Leu836=) n.612+7488C>T n.2964C>T c.3072C>T (p.Leu1024=) n.2778C>T c.3381C>T (p.Leu1127=) n.3528C>T c.2574C>T (p.Leu858=) c.2961C>T (p.Leu987=) c.2325C>T (p.Leu775=) c.-615C>T (n.-615C>T) | |
5 | g.177211781T>A | CA362324183 | NSD1 | c.2509T>A (p.Ser837Thr) n.612+7489T>A n.2965T>A c.3073T>A (p.Ser1025Thr) n.2779T>A c.3382T>A (p.Ser1128Thr) n.3529T>A c.2575T>A (p.Ser859Thr) c.2962T>A (p.Ser988Thr) c.2326T>A (p.Ser776Thr) c.-614T>A (n.-614T>A) | |
5 | g.177211781T>C | CA362324186 | NSD1 | c.2509T>C (p.Ser837Pro) n.612+7489T>C n.2965T>C c.3073T>C (p.Ser1025Pro) n.2779T>C c.3382T>C (p.Ser1128Pro) n.3529T>C c.2575T>C (p.Ser859Pro) c.2962T>C (p.Ser988Pro) c.2326T>C (p.Ser776Pro) c.-614T>C (n.-614T>C) | |
5 | g.177211781T>G | CA362324189 | NSD1 | c.2509T>G (p.Ser837Ala) n.612+7489T>G n.2965T>G c.3073T>G (p.Ser1025Ala) n.2779T>G c.3382T>G (p.Ser1128Ala) n.3529T>G c.2575T>G (p.Ser859Ala) c.2962T>G (p.Ser988Ala) c.2326T>G (p.Ser776Ala) c.-614T>G (n.-614T>G) | gnomAD v4 |
5 | g.177211781dup | CA10605938 | NSD1 | c.2509dup (p.Ser837PhefsTer3) n.612+7489dup n.2965dup c.3073dup (p.Ser1025PhefsTer3) n.2779dup c.3382dup (p.Ser1128PhefsTer3) n.3529dup c.2575dup (p.Ser859PhefsTer3) c.2962dup (p.Ser988PhefsTer3) c.2326dup (p.Ser776PhefsTer3) c.-614dup (n.-614dup) | ClinVar dbSNP |
5 | g.177211782del | CA2580074138 | NSD1 | c.2510del (p.Ser837PhefsTer13) n.612+7490del n.2966del c.3074del (p.Ser1025PhefsTer13) n.2780del c.3383del (p.Ser1128PhefsTer13) n.3530del c.2576del (p.Ser859PhefsTer13) c.2963del (p.Ser988PhefsTer13) c.2327del (p.Ser776PhefsTer13) c.-613del (n.-613del) | ClinVar |
5 | g.177211782C>A | CA3577426 | NSD1 | c.2510C>A (p.Ser837Tyr) n.612+7490C>A n.2966C>A c.3074C>A (p.Ser1025Tyr) n.2780C>A c.3383C>A (p.Ser1128Tyr) n.3530C>A c.2576C>A (p.Ser859Tyr) c.2963C>A (p.Ser988Tyr) c.2327C>A (p.Ser776Tyr) c.-613C>A (n.-613C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211782C= | CA1603478887 | NSD1 | c.2510C= (p.Ser837=) n.612+7490C= n.2966C= c.3074C= (p.Ser1025=) n.2780C= c.3383C= (p.Ser1128=) n.3530C= c.2576C= (p.Ser859=) c.2963C= (p.Ser988=) c.2327C= (p.Ser776=) c.-613C= (n.-613C=) | |
5 | g.177211782C>G | CA362324199 | NSD1 | c.2510C>G (p.Ser837Cys) n.612+7490C>G n.2966C>G c.3074C>G (p.Ser1025Cys) n.2780C>G c.3383C>G (p.Ser1128Cys) n.3530C>G c.2576C>G (p.Ser859Cys) c.2963C>G (p.Ser988Cys) c.2327C>G (p.Ser776Cys) c.-613C>G (n.-613C>G) | |
5 | g.177211782C>T | CA246221 | NSD1 | c.2510C>T (p.Ser837Phe) n.612+7490C>T n.2966C>T c.3074C>T (p.Ser1025Phe) n.2780C>T c.3383C>T (p.Ser1128Phe) n.3530C>T c.2576C>T (p.Ser859Phe) c.2963C>T (p.Ser988Phe) c.2327C>T (p.Ser776Phe) c.-613C>T (n.-613C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211782_177211784delinsCTT | CA1603478889 | NSD1 | c.2510_2512delinsCTT (p.Ser837=) n.612+7490_612+7492delinsCTT n.2966_2968delinsCTT c.3074_3076delinsCTT (p.Ser1025=) n.2780_2782delinsCTT c.3383_3385delinsCTT (p.Ser1128=) n.3530_3532delinsCTT c.2576_2578delinsCTT (p.Ser859=) c.2963_2965delinsCTT (p.Ser988=) c.2327_2329delinsCTT (p.Ser776=) c.-613_-611delinsCTT (n.-613_-611delinsCTT) | |
5 | g.177211783T>A | CA447961104 | NSD1 | c.2511T>A (p.Ser837=) n.612+7491T>A n.2967T>A c.3075T>A (p.Ser1025=) n.2781T>A c.3384T>A (p.Ser1128=) n.3531T>A c.2577T>A (p.Ser859=) c.2964T>A (p.Ser988=) c.2328T>A (p.Ser776=) c.-612T>A (n.-612T>A) | gnomAD v4 |
5 | g.177211783T>C | CA447961105 | NSD1 | c.2511T>C (p.Ser837=) n.612+7491T>C n.2967T>C c.3075T>C (p.Ser1025=) n.2781T>C c.3384T>C (p.Ser1128=) n.3531T>C c.2577T>C (p.Ser859=) c.2964T>C (p.Ser988=) c.2328T>C (p.Ser776=) c.-612T>C (n.-612T>C) | |
5 | g.177211783T>G | CA447961106 | NSD1 | c.2511T>G (p.Ser837=) n.612+7491T>G n.2967T>G c.3075T>G (p.Ser1025=) n.2781T>G c.3384T>G (p.Ser1128=) n.3531T>G c.2577T>G (p.Ser859=) c.2964T>G (p.Ser988=) c.2328T>G (p.Ser776=) c.-612T>G (n.-612T>G) | |
5 | g.177211785_177211786del | CA658655925 | NSD1 | c.2513_2514del (p.Phe838Ter) n.612+7493_612+7494del n.2969_2970del c.3077_3078del (p.Phe1026Ter) n.2783_2784del c.3386_3387del (p.Phe1129Ter) n.3533_3534del c.2579_2580del (p.Phe860Ter) c.2966_2967del (p.Phe989Ter) c.2330_2331del (p.Phe777Ter) c.-610_-609del (n.-610_-609del) | ClinVar dbSNP |
5 | g.177211784T>A | CA362324200 | NSD1 | c.2512T>A (p.Phe838Ile) n.612+7492T>A n.2968T>A c.3076T>A (p.Phe1026Ile) n.2782T>A c.3385T>A (p.Phe1129Ile) n.3532T>A c.2578T>A (p.Phe860Ile) c.2965T>A (p.Phe989Ile) c.2329T>A (p.Phe777Ile) c.-611T>A (n.-611T>A) | |
5 | g.177211784T>C | CA362324201 | NSD1 | c.2512T>C (p.Phe838Leu) n.612+7492T>C n.2968T>C c.3076T>C (p.Phe1026Leu) n.2782T>C c.3385T>C (p.Phe1129Leu) n.3532T>C c.2578T>C (p.Phe860Leu) c.2965T>C (p.Phe989Leu) c.2329T>C (p.Phe777Leu) c.-611T>C (n.-611T>C) | |
5 | g.177211784T>G | CA362324202 | NSD1 | c.2512T>G (p.Phe838Val) n.612+7492T>G n.2968T>G c.3076T>G (p.Phe1026Val) n.2782T>G c.3385T>G (p.Phe1129Val) n.3532T>G c.2578T>G (p.Phe860Val) c.2965T>G (p.Phe989Val) c.2329T>G (p.Phe777Val) c.-611T>G (n.-611T>G) | |
5 | g.177211785T>A | CA362324205 | NSD1 | c.2513T>A (p.Phe838Tyr) n.612+7493T>A n.2969T>A c.3077T>A (p.Phe1026Tyr) n.2783T>A c.3386T>A (p.Phe1129Tyr) n.3533T>A c.2579T>A (p.Phe860Tyr) c.2966T>A (p.Phe989Tyr) c.2330T>A (p.Phe777Tyr) c.-610T>A (n.-610T>A) | |
5 | g.177211785T>C | CA362324207 | NSD1 | c.2513T>C (p.Phe838Ser) n.612+7493T>C n.2969T>C c.3077T>C (p.Phe1026Ser) n.2783T>C c.3386T>C (p.Phe1129Ser) n.3533T>C c.2579T>C (p.Phe860Ser) c.2966T>C (p.Phe989Ser) c.2330T>C (p.Phe777Ser) c.-610T>C (n.-610T>C) | dbSNP |
5 | g.177211785T>G | CA362324209 | NSD1 | c.2513T>G (p.Phe838Cys) n.612+7493T>G n.2969T>G c.3077T>G (p.Phe1026Cys) n.2783T>G c.3386T>G (p.Phe1129Cys) n.3533T>G c.2579T>G (p.Phe860Cys) c.2966T>G (p.Phe989Cys) c.2330T>G (p.Phe777Cys) c.-610T>G (n.-610T>G) | |
5 | g.177211785_177211788delinsTTGA | CA1603478892 | NSD1 | c.2513_2516delinsTTGA (p.Phe838=) n.612+7493_612+7496delinsTTGA n.2969_2972delinsTTGA c.3077_3080delinsTTGA (p.Phe1026=) n.2783_2786delinsTTGA c.3386_3389delinsTTGA (p.Phe1129=) n.3533_3536delinsTTGA c.2579_2582delinsTTGA (p.Phe860=) c.2966_2969delinsTTGA (p.Phe989=) c.2330_2333delinsTTGA (p.Phe777=) c.-610_-607delinsTTGA (n.-610_-607delinsTTGA) | |
5 | g.177211786T>A | CA362324214 | NSD1 | c.2514T>A (p.Phe838Leu) n.612+7494T>A n.2970T>A c.3078T>A (p.Phe1026Leu) n.2784T>A c.3387T>A (p.Phe1129Leu) n.3534T>A c.2580T>A (p.Phe860Leu) c.2967T>A (p.Phe989Leu) c.2331T>A (p.Phe777Leu) c.-609T>A (n.-609T>A) | |
5 | g.177211786T>C | CA3577427 | NSD1 | c.2514T>C (p.Phe838=) n.612+7494T>C n.2970T>C c.3078T>C (p.Phe1026=) n.2784T>C c.3387T>C (p.Phe1129=) n.3534T>C c.2580T>C (p.Phe860=) c.2967T>C (p.Phe989=) c.2331T>C (p.Phe777=) c.-609T>C (n.-609T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211786T>G | CA362324217 | NSD1 | c.2514T>G (p.Phe838Leu) n.612+7494T>G n.2970T>G c.3078T>G (p.Phe1026Leu) n.2784T>G c.3387T>G (p.Phe1129Leu) n.3534T>G c.2580T>G (p.Phe860Leu) c.2967T>G (p.Phe989Leu) c.2331T>G (p.Phe777Leu) c.-609T>G (n.-609T>G) | |
5 | g.177211786T= | CA1603478894 | NSD1 | c.2514T= (p.Phe838=) n.612+7494T= n.2970T= c.3078T= (p.Phe1026=) n.2784T= c.3387T= (p.Phe1129=) n.3534T= c.2580T= (p.Phe860=) c.2967T= (p.Phe989=) c.2331T= (p.Phe777=) c.-609T= (n.-609T=) | |
5 | g.177211786_177211788delinsGG | CA10588399 | NSD1 | c.2514_2516delinsGG (p.Phe838LeufsTer12) n.612+7494_612+7496delinsGG n.2970_2972delinsGG c.3078_3080delinsGG (p.Phe1026LeufsTer12) n.2784_2786delinsGG c.3387_3389delinsGG (p.Phe1129LeufsTer12) n.3534_3536delinsGG c.2580_2582delinsGG (p.Phe860LeufsTer12) c.2967_2969delinsGG (p.Phe989LeufsTer12) c.2331_2333delinsGG (p.Phe777LeufsTer12) c.-609_-607delinsGG (n.-609_-607delinsGG) | ClinVar dbSNP |
5 | g.177211787G>A | CA362324225 | NSD1 | c.2515G>A (p.Glu839Lys) n.612+7495G>A n.2971G>A c.3079G>A (p.Glu1027Lys) n.2785G>A c.3388G>A (p.Glu1130Lys) n.3535G>A c.2581G>A (p.Glu861Lys) c.2968G>A (p.Glu990Lys) c.2332G>A (p.Glu778Lys) c.-608G>A (n.-608G>A) | |
5 | g.177211787G>C | CA362324231 | NSD1 | c.2515G>C (p.Glu839Gln) n.612+7495G>C n.2971G>C c.3079G>C (p.Glu1027Gln) n.2785G>C c.3388G>C (p.Glu1130Gln) n.3535G>C c.2581G>C (p.Glu861Gln) c.2968G>C (p.Glu990Gln) c.2332G>C (p.Glu778Gln) c.-608G>C (n.-608G>C) | dbSNP COSMIC COSMIC |
5 | g.177211787G>T | CA362324227 | NSD1 | c.2515G>T (p.Glu839Ter) n.612+7495G>T n.2971G>T c.3079G>T (p.Glu1027Ter) n.2785G>T c.3388G>T (p.Glu1130Ter) n.3535G>T c.2581G>T (p.Glu861Ter) c.2968G>T (p.Glu990Ter) c.2332G>T (p.Glu778Ter) c.-608G>T (n.-608G>T) | |
5 | g.177211788A= | CA1603478903 | NSD1 | c.2516A= (p.Glu839=) n.612+7496A= n.2972A= c.3080A= (p.Glu1027=) n.2786A= c.3389A= (p.Glu1130=) n.3536A= c.2582A= (p.Glu861=) c.2969A= (p.Glu990=) c.2333A= (p.Glu778=) c.-607A= (n.-607A=) | |
5 | g.177211788A>C | CA362324234 | NSD1 | c.2516A>C (p.Glu839Ala) n.612+7496A>C n.2972A>C c.3080A>C (p.Glu1027Ala) n.2786A>C c.3389A>C (p.Glu1130Ala) n.3536A>C c.2582A>C (p.Glu861Ala) c.2969A>C (p.Glu990Ala) c.2333A>C (p.Glu778Ala) c.-607A>C (n.-607A>C) | |
5 | g.177211788A>G | CA223670 | NSD1 | c.2516A>G (p.Glu839Gly) n.612+7496A>G n.2972A>G c.3080A>G (p.Glu1027Gly) n.2786A>G c.3389A>G (p.Glu1130Gly) n.3536A>G c.2582A>G (p.Glu861Gly) c.2969A>G (p.Glu990Gly) c.2333A>G (p.Glu778Gly) c.-607A>G (n.-607A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211788A>T | CA362324240 | NSD1 | c.2516A>T (p.Glu839Val) n.612+7496A>T n.2972A>T c.3080A>T (p.Glu1027Val) n.2786A>T c.3389A>T (p.Glu1130Val) n.3536A>T c.2582A>T (p.Glu861Val) c.2969A>T (p.Glu990Val) c.2333A>T (p.Glu778Val) c.-607A>T (n.-607A>T) | |
5 | g.177211789A>C | CA362324243 | NSD1 | c.2517A>C (p.Glu839Asp) n.612+7497A>C n.2973A>C c.3081A>C (p.Glu1027Asp) n.2787A>C c.3390A>C (p.Glu1130Asp) n.3537A>C c.2583A>C (p.Glu861Asp) c.2970A>C (p.Glu990Asp) c.2334A>C (p.Glu778Asp) c.-606A>C (n.-606A>C) | |
5 | g.177211789A>G | CA447961107 | NSD1 | c.2517A>G (p.Glu839=) n.612+7497A>G n.2973A>G c.3081A>G (p.Glu1027=) n.2787A>G c.3390A>G (p.Glu1130=) n.3537A>G c.2583A>G (p.Glu861=) c.2970A>G (p.Glu990=) c.2334A>G (p.Glu778=) c.-606A>G (n.-606A>G) | |
5 | g.177211789A>T | CA362324246 | NSD1 | c.2517A>T (p.Glu839Asp) n.612+7497A>T n.2973A>T c.3081A>T (p.Glu1027Asp) n.2787A>T c.3390A>T (p.Glu1130Asp) n.3537A>T c.2583A>T (p.Glu861Asp) c.2970A>T (p.Glu990Asp) c.2334A>T (p.Glu778Asp) c.-606A>T (n.-606A>T) | |
5 | g.177211790A>C | CA362324250 | NSD1 | c.2518A>C (p.Asn840His) n.612+7498A>C n.2974A>C c.3082A>C (p.Asn1028His) n.2788A>C c.3391A>C (p.Asn1131His) n.3538A>C c.2584A>C (p.Asn862His) c.2971A>C (p.Asn991His) c.2335A>C (p.Asn779His) c.-605A>C (n.-605A>C) | |
5 | g.177211790A>G | CA362324253 | NSD1 | c.2518A>G (p.Asn840Asp) n.612+7498A>G n.2974A>G c.3082A>G (p.Asn1028Asp) n.2788A>G c.3391A>G (p.Asn1131Asp) n.3538A>G c.2584A>G (p.Asn862Asp) c.2971A>G (p.Asn991Asp) c.2335A>G (p.Asn779Asp) c.-605A>G (n.-605A>G) | gnomAD v4 |
5 | g.177211790A>T | CA362324254 | NSD1 | c.2518A>T (p.Asn840Tyr) n.612+7498A>T n.2974A>T c.3082A>T (p.Asn1028Tyr) n.2788A>T c.3391A>T (p.Asn1131Tyr) n.3538A>T c.2584A>T (p.Asn862Tyr) c.2971A>T (p.Asn991Tyr) c.2335A>T (p.Asn779Tyr) c.-605A>T (n.-605A>T) | |
5 | g.177211791A>C | CA362324259 | NSD1 | c.2519A>C (p.Asn840Thr) n.612+7499A>C n.2975A>C c.3083A>C (p.Asn1028Thr) n.2789A>C c.3392A>C (p.Asn1131Thr) n.3539A>C c.2585A>C (p.Asn862Thr) c.2972A>C (p.Asn991Thr) c.2336A>C (p.Asn779Thr) c.-604A>C (n.-604A>C) | |
5 | g.177211791A>G | CA362324261 | NSD1 | c.2519A>G (p.Asn840Ser) n.612+7499A>G n.2975A>G c.3083A>G (p.Asn1028Ser) n.2789A>G c.3392A>G (p.Asn1131Ser) n.3539A>G c.2585A>G (p.Asn862Ser) c.2972A>G (p.Asn991Ser) c.2336A>G (p.Asn779Ser) c.-604A>G (n.-604A>G) | |
5 | g.177211791A>T | CA362324265 | NSD1 | c.2519A>T (p.Asn840Ile) n.612+7499A>T n.2975A>T c.3083A>T (p.Asn1028Ile) n.2789A>T c.3392A>T (p.Asn1131Ile) n.3539A>T c.2585A>T (p.Asn862Ile) c.2972A>T (p.Asn991Ile) c.2336A>T (p.Asn779Ile) c.-604A>T (n.-604A>T) | |
5 | g.177211792C>A | CA362324276 | NSD1 | c.2520C>A (p.Asn840Lys) n.612+7500C>A n.2976C>A c.3084C>A (p.Asn1028Lys) n.2790C>A c.3393C>A (p.Asn1131Lys) n.3540C>A c.2586C>A (p.Asn862Lys) c.2973C>A (p.Asn991Lys) c.2337C>A (p.Asn779Lys) c.-603C>A (n.-603C>A) | |
5 | g.177211792C= | CA1603478920 | NSD1 | c.2520C= (p.Asn840=) n.612+7500C= n.2976C= c.3084C= (p.Asn1028=) n.2790C= c.3393C= (p.Asn1131=) n.3540C= c.2586C= (p.Asn862=) c.2973C= (p.Asn991=) c.2337C= (p.Asn779=) c.-603C= (n.-603C=) | |
5 | g.177211792C>G | CA362324271 | NSD1 | c.2520C>G (p.Asn840Lys) n.612+7500C>G n.2976C>G c.3084C>G (p.Asn1028Lys) n.2790C>G c.3393C>G (p.Asn1131Lys) n.3540C>G c.2586C>G (p.Asn862Lys) c.2973C>G (p.Asn991Lys) c.2337C>G (p.Asn779Lys) c.-603C>G (n.-603C>G) | dbSNP |
5 | g.177211792C>T | CA223673 | NSD1 | c.2520C>T (p.Asn840=) n.612+7500C>T n.2976C>T c.3084C>T (p.Asn1028=) n.2790C>T c.3393C>T (p.Asn1131=) n.3540C>T c.2586C>T (p.Asn862=) c.2973C>T (p.Asn991=) c.2337C>T (p.Asn779=) c.-603C>T (n.-603C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211793G>A | CA246224 | NSD1 | c.2521G>A (p.Gly841Arg) n.612+7501G>A n.2977G>A c.3085G>A (p.Gly1029Arg) n.2791G>A c.3394G>A (p.Gly1132Arg) n.3541G>A c.2587G>A (p.Gly863Arg) c.2974G>A (p.Gly992Arg) c.2338G>A (p.Gly780Arg) c.-602G>A (n.-602G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211793G>C | CA362324282 | NSD1 | c.2521G>C (p.Gly841Arg) n.612+7501G>C n.2977G>C c.3085G>C (p.Gly1029Arg) n.2791G>C c.3394G>C (p.Gly1132Arg) n.3541G>C c.2587G>C (p.Gly863Arg) c.2974G>C (p.Gly992Arg) c.2338G>C (p.Gly780Arg) c.-602G>C (n.-602G>C) | |
5 | g.177211793G= | CA1603478926 | NSD1 | c.2521G= (p.Gly841=) n.612+7501G= n.2977G= c.3085G= (p.Gly1029=) n.2791G= c.3394G= (p.Gly1132=) n.3541G= c.2587G= (p.Gly863=) c.2974G= (p.Gly992=) c.2338G= (p.Gly780=) c.-602G= (n.-602G=) | |
5 | g.177211793G>T | CA362324285 | NSD1 | c.2521G>T (p.Gly841Ter) n.612+7501G>T n.2977G>T c.3085G>T (p.Gly1029Ter) n.2791G>T c.3394G>T (p.Gly1132Ter) n.3541G>T c.2587G>T (p.Gly863Ter) c.2974G>T (p.Gly992Ter) c.2338G>T (p.Gly780Ter) c.-602G>T (n.-602G>T) | dbSNP COSMIC COSMIC |
5 | g.177211794G>A | CA362324290 | NSD1 | c.2522G>A (p.Gly841Glu) n.612+7502G>A n.2978G>A c.3086G>A (p.Gly1029Glu) n.2792G>A c.3395G>A (p.Gly1132Glu) n.3542G>A c.2588G>A (p.Gly863Glu) c.2975G>A (p.Gly992Glu) c.2339G>A (p.Gly780Glu) c.-601G>A (n.-601G>A) | dbSNP |
5 | g.177211794G>C | CA362324293 | NSD1 | c.2522G>C (p.Gly841Ala) n.612+7502G>C n.2978G>C c.3086G>C (p.Gly1029Ala) n.2792G>C c.3395G>C (p.Gly1132Ala) n.3542G>C c.2588G>C (p.Gly863Ala) c.2975G>C (p.Gly992Ala) c.2339G>C (p.Gly780Ala) c.-601G>C (n.-601G>C) | |
5 | g.177211794G= | CA1603478930 | NSD1 | c.2522G= (p.Gly841=) n.612+7502G= n.2978G= c.3086G= (p.Gly1029=) n.2792G= c.3395G= (p.Gly1132=) n.3542G= c.2588G= (p.Gly863=) c.2975G= (p.Gly992=) c.2339G= (p.Gly780=) c.-601G= (n.-601G=) | |
5 | g.177211794G>T | CA362324294 | NSD1 | c.2522G>T (p.Gly841Val) n.612+7502G>T n.2978G>T c.3086G>T (p.Gly1029Val) n.2792G>T c.3395G>T (p.Gly1132Val) n.3542G>T c.2588G>T (p.Gly863Val) c.2975G>T (p.Gly992Val) c.2339G>T (p.Gly780Val) c.-601G>T (n.-601G>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177211795A= | CA1603478933 | NSD1 | c.2523A= (p.Gly841=) n.612+7503A= n.2979A= c.3087A= (p.Gly1029=) n.2793A= c.3396A= (p.Gly1132=) n.3543A= c.2589A= (p.Gly863=) c.2976A= (p.Gly992=) c.2340A= (p.Gly780=) c.-600A= (n.-600A=) | |
5 | g.177211795A>C | CA447961109 | NSD1 | c.2523A>C (p.Gly841=) n.612+7503A>C n.2979A>C c.3087A>C (p.Gly1029=) n.2793A>C c.3396A>C (p.Gly1132=) n.3543A>C c.2589A>C (p.Gly863=) c.2976A>C (p.Gly992=) c.2340A>C (p.Gly780=) c.-600A>C (n.-600A>C) | |
5 | g.177211795A>G | CA3577428 | NSD1 | c.2523A>G (p.Gly841=) n.612+7503A>G n.2979A>G c.3087A>G (p.Gly1029=) n.2793A>G c.3396A>G (p.Gly1132=) n.3543A>G c.2589A>G (p.Gly863=) c.2976A>G (p.Gly992=) c.2340A>G (p.Gly780=) c.-600A>G (n.-600A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177211795A>T | CA447961110 | NSD1 | c.2523A>T (p.Gly841=) n.612+7503A>T n.2979A>T c.3087A>T (p.Gly1029=) n.2793A>T c.3396A>T (p.Gly1132=) n.3543A>T c.2589A>T (p.Gly863=) c.2976A>T (p.Gly992=) c.2340A>T (p.Gly780=) c.-600A>T (n.-600A>T) | |
5 | g.177211798del | CA2711102900 | NSD1 | c.2526del (p.Gly843AlafsTer7) n.612+7506del n.2982del c.3090del (p.Gly1031AlafsTer7) n.2796del c.3399del (p.Gly1134AlafsTer7) n.3546del c.2592del (p.Gly865AlafsTer7) c.2979del (p.Gly994AlafsTer7) c.2343del (p.Gly782AlafsTer7) c.-597del (n.-597del) | dbSNP |
5 | g.177211796A= | CA1603478939 | NSD1 | c.2524A= (p.Lys842=) n.612+7504A= n.2980A= c.3088A= (p.Lys1030=) n.2794A= c.3397A= (p.Lys1133=) n.3544A= c.2590A= (p.Lys864=) c.2977A= (p.Lys993=) c.2341A= (p.Lys781=) c.-599A= (n.-599A=) | |
5 | g.177211796A>C | CA362324301 | NSD1 | c.2524A>C (p.Lys842Gln) n.612+7504A>C n.2980A>C c.3088A>C (p.Lys1030Gln) n.2794A>C c.3397A>C (p.Lys1133Gln) n.3544A>C c.2590A>C (p.Lys864Gln) c.2977A>C (p.Lys993Gln) c.2341A>C (p.Lys781Gln) c.-599A>C (n.-599A>C) | |
5 | g.177211796A>G | CA10624121 | NSD1 | c.2524A>G (p.Lys842Glu) n.612+7504A>G n.2980A>G c.3088A>G (p.Lys1030Glu) n.2794A>G c.3397A>G (p.Lys1133Glu) n.3544A>G c.2590A>G (p.Lys864Glu) c.2977A>G (p.Lys993Glu) c.2341A>G (p.Lys781Glu) c.-599A>G (n.-599A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177211796A>T | CA362324313 | NSD1 | c.2524A>T (p.Lys842Ter) n.612+7504A>T n.2980A>T c.3088A>T (p.Lys1030Ter) n.2794A>T c.3397A>T (p.Lys1133Ter) n.3544A>T c.2590A>T (p.Lys864Ter) c.2977A>T (p.Lys993Ter) c.2341A>T (p.Lys781Ter) c.-599A>T (n.-599A>T) | |
5 | g.177211797A>C | CA362324319 | NSD1 | c.2525A>C (p.Lys842Thr) n.612+7505A>C n.2981A>C c.3089A>C (p.Lys1030Thr) n.2795A>C c.3398A>C (p.Lys1133Thr) n.3545A>C c.2591A>C (p.Lys864Thr) c.2978A>C (p.Lys993Thr) c.2342A>C (p.Lys781Thr) c.-598A>C (n.-598A>C) | |
5 | g.177211797A>G | CA362324320 | NSD1 | c.2525A>G (p.Lys842Arg) n.612+7505A>G n.2981A>G c.3089A>G (p.Lys1030Arg) n.2795A>G c.3398A>G (p.Lys1133Arg) n.3545A>G c.2591A>G (p.Lys864Arg) c.2978A>G (p.Lys993Arg) c.2342A>G (p.Lys781Arg) c.-598A>G (n.-598A>G) | |
5 | g.177211797A>T | CA362324322 | NSD1 | c.2525A>T (p.Lys842Ile) n.612+7505A>T n.2981A>T c.3089A>T (p.Lys1030Ile) n.2795A>T c.3398A>T (p.Lys1133Ile) n.3545A>T c.2591A>T (p.Lys864Ile) c.2978A>T (p.Lys993Ile) c.2342A>T (p.Lys781Ile) c.-598A>T (n.-598A>T) | |
5 | g.177211798A>C | CA362324329 | NSD1 | c.2526A>C (p.Lys842Asn) n.612+7506A>C n.2982A>C c.3090A>C (p.Lys1030Asn) n.2796A>C c.3399A>C (p.Lys1133Asn) n.3546A>C c.2592A>C (p.Lys864Asn) c.2979A>C (p.Lys993Asn) c.2343A>C (p.Lys781Asn) c.-597A>C (n.-597A>C) | |
5 | g.177211798A>G | CA447961113 | NSD1 | c.2526A>G (p.Lys842=) n.612+7506A>G n.2982A>G c.3090A>G (p.Lys1030=) n.2796A>G c.3399A>G (p.Lys1133=) n.3546A>G c.2592A>G (p.Lys864=) c.2979A>G (p.Lys993=) c.2343A>G (p.Lys781=) c.-597A>G (n.-597A>G) | dbSNP |
5 | g.177211798A>T | CA362324325 | NSD1 | c.2526A>T (p.Lys842Asn) n.612+7506A>T n.2982A>T c.3090A>T (p.Lys1030Asn) n.2796A>T c.3399A>T (p.Lys1133Asn) n.3546A>T c.2592A>T (p.Lys864Asn) c.2979A>T (p.Lys993Asn) c.2343A>T (p.Lys781Asn) c.-597A>T (n.-597A>T) | |
5 | g.177211799G>A | CA362324333 | NSD1 | c.2527G>A (p.Gly843Ser) n.612+7507G>A n.2983G>A c.3091G>A (p.Gly1031Ser) n.2797G>A c.3400G>A (p.Gly1134Ser) n.3547G>A c.2593G>A (p.Gly865Ser) c.2980G>A (p.Gly994Ser) c.2344G>A (p.Gly782Ser) c.-596G>A (n.-596G>A) | gnomAD v4 |
5 | g.177211799G>C | CA362324339 | NSD1 | c.2527G>C (p.Gly843Arg) n.612+7507G>C n.2983G>C c.3091G>C (p.Gly1031Arg) n.2797G>C c.3400G>C (p.Gly1134Arg) n.3547G>C c.2593G>C (p.Gly865Arg) c.2980G>C (p.Gly994Arg) c.2344G>C (p.Gly782Arg) c.-596G>C (n.-596G>C) | dbSNP |
5 | g.177211799G= | CA1603478950 | NSD1 | c.2527G= (p.Gly843=) n.612+7507G= n.2983G= c.3091G= (p.Gly1031=) n.2797G= c.3400G= (p.Gly1134=) n.3547G= c.2593G= (p.Gly865=) c.2980G= (p.Gly994=) c.2344G= (p.Gly782=) c.-596G= (n.-596G=) | |
5 | g.177211799G>T | CA362324336 | NSD1 | c.2527G>T (p.Gly843Cys) n.612+7507G>T n.2983G>T c.3091G>T (p.Gly1031Cys) n.2797G>T c.3400G>T (p.Gly1134Cys) n.3547G>T c.2593G>T (p.Gly865Cys) c.2980G>T (p.Gly994Cys) c.2344G>T (p.Gly782Cys) c.-596G>T (n.-596G>T) | |
5 | g.177211800G>A | CA362324345 | NSD1 | c.2528G>A (p.Gly843Asp) n.612+7508G>A n.2984G>A c.3092G>A (p.Gly1031Asp) n.2798G>A c.3401G>A (p.Gly1134Asp) n.3548G>A c.2594G>A (p.Gly865Asp) c.2981G>A (p.Gly994Asp) c.2345G>A (p.Gly782Asp) c.-595G>A (n.-595G>A) | |
5 | g.177211800G>C | CA362324349 | NSD1 | c.2528G>C (p.Gly843Ala) n.612+7508G>C n.2984G>C c.3092G>C (p.Gly1031Ala) n.2798G>C c.3401G>C (p.Gly1134Ala) n.3548G>C c.2594G>C (p.Gly865Ala) c.2981G>C (p.Gly994Ala) c.2345G>C (p.Gly782Ala) c.-595G>C (n.-595G>C) | |
5 | g.177211800G>T | CA362324346 | NSD1 | c.2528G>T (p.Gly843Val) n.612+7508G>T n.2984G>T c.3092G>T (p.Gly1031Val) n.2798G>T c.3401G>T (p.Gly1134Val) n.3548G>T c.2594G>T (p.Gly865Val) c.2981G>T (p.Gly994Val) c.2345G>T (p.Gly782Val) c.-595G>T (n.-595G>T) | |
5 | g.177211801C>A | CA447961117 | NSD1 | c.2529C>A (p.Gly843=) n.612+7509C>A n.2985C>A c.3093C>A (p.Gly1031=) n.2799C>A c.3402C>A (p.Gly1134=) n.3549C>A c.2595C>A (p.Gly865=) c.2982C>A (p.Gly994=) c.2346C>A (p.Gly782=) c.-594C>A (n.-594C>A) | |
5 | g.177211801C>G | CA447961116 | NSD1 | c.2529C>G (p.Gly843=) n.612+7509C>G n.2985C>G c.3093C>G (p.Gly1031=) n.2799C>G c.3402C>G (p.Gly1134=) n.3549C>G c.2595C>G (p.Gly865=) c.2982C>G (p.Gly994=) c.2346C>G (p.Gly782=) c.-594C>G (n.-594C>G) | |
5 | g.177211801C>T | CA447961115 | NSD1 | c.2529C>T (p.Gly843=) n.612+7509C>T n.2985C>T c.3093C>T (p.Gly1031=) n.2799C>T c.3402C>T (p.Gly1134=) n.3549C>T c.2595C>T (p.Gly865=) c.2982C>T (p.Gly994=) c.2346C>T (p.Gly782=) c.-594C>T (n.-594C>T) | dbSNP gnomAD v4 |
5 | g.177211803del | CA2695202837 | NSD1 | c.2531del (p.Pro844GlnfsTer6) n.612+7511del n.2987del c.3095del (p.Pro1032GlnfsTer6) n.2801del c.3404del (p.Pro1135GlnfsTer6) n.3551del c.2597del (p.Pro866GlnfsTer6) c.2984del (p.Pro995GlnfsTer6) c.2348del (p.Pro783GlnfsTer6) c.-592del (n.-592del) | |
5 | g.177211802C>A | CA362324353 | NSD1 | c.2530C>A (p.Pro844Thr) n.612+7510C>A n.2986C>A c.3094C>A (p.Pro1032Thr) n.2800C>A c.3403C>A (p.Pro1135Thr) n.3550C>A c.2596C>A (p.Pro866Thr) c.2983C>A (p.Pro995Thr) c.2347C>A (p.Pro783Thr) c.-593C>A (n.-593C>A) | gnomAD v4 |
5 | g.177211802C= | CA1603478955 | NSD1 | c.2530C= (p.Pro844=) n.612+7510C= n.2986C= c.3094C= (p.Pro1032=) n.2800C= c.3403C= (p.Pro1135=) n.3550C= c.2596C= (p.Pro866=) c.2983C= (p.Pro995=) c.2347C= (p.Pro783=) c.-593C= (n.-593C=) | |
5 | g.177211802C>G | CA3577429 | NSD1 | c.2530C>G (p.Pro844Ala) n.612+7510C>G n.2986C>G c.3094C>G (p.Pro1032Ala) n.2800C>G c.3403C>G (p.Pro1135Ala) n.3550C>G c.2596C>G (p.Pro866Ala) c.2983C>G (p.Pro995Ala) c.2347C>G (p.Pro783Ala) c.-593C>G (n.-593C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177211802C>T | CA362324358 | NSD1 | c.2530C>T (p.Pro844Ser) n.612+7510C>T n.2986C>T c.3094C>T (p.Pro1032Ser) n.2800C>T c.3403C>T (p.Pro1135Ser) n.3550C>T c.2596C>T (p.Pro866Ser) c.2983C>T (p.Pro995Ser) c.2347C>T (p.Pro783Ser) c.-593C>T (n.-593C>T) | gnomAD v4 |
5 | g.177211803C>A | CA362324362 | NSD1 | c.2531C>A (p.Pro844Gln) n.612+7511C>A n.2987C>A c.3095C>A (p.Pro1032Gln) n.2801C>A c.3404C>A (p.Pro1135Gln) n.3551C>A c.2597C>A (p.Pro866Gln) c.2984C>A (p.Pro995Gln) c.2348C>A (p.Pro783Gln) c.-592C>A (n.-592C>A) | |
5 | g.177211803C= | CA1603479001 | NSD1 | c.2531C= (p.Pro844=) n.612+7511C= n.2987C= c.3095C= (p.Pro1032=) n.2801C= c.3404C= (p.Pro1135=) n.3551C= c.2597C= (p.Pro866=) c.2984C= (p.Pro995=) c.2348C= (p.Pro783=) c.-592C= (n.-592C=) | |
5 | g.177211803C>G | CA362324365 | NSD1 | c.2531C>G (p.Pro844Arg) n.612+7511C>G n.2987C>G c.3095C>G (p.Pro1032Arg) n.2801C>G c.3404C>G (p.Pro1135Arg) n.3551C>G c.2597C>G (p.Pro866Arg) c.2984C>G (p.Pro995Arg) c.2348C>G (p.Pro783Arg) c.-592C>G (n.-592C>G) | |
5 | g.177211803C>T | CA132831436 | NSD1 | c.2531C>T (p.Pro844Leu) n.612+7511C>T n.2987C>T c.3095C>T (p.Pro1032Leu) n.2801C>T c.3404C>T (p.Pro1135Leu) n.3551C>T c.2597C>T (p.Pro866Leu) c.2984C>T (p.Pro995Leu) c.2348C>T (p.Pro783Leu) c.-592C>T (n.-592C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |